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Pediatric cancer database
General information | Literature | Expression | Regulation | Variant | Interaction

Basic Information

Gene ID

4654

Name

MYOD1

Synonymous

MYF3|MYOD|PUM|bHLHc1;myogenic differentiation 1;MYOD1;myogenic differentiation 1

Definition

class C basic helix-loop-helix protein 1|myf-3|myoblast determination protein 1|myogenic factor 3

Position

11p15.4

Gene Type

protein-coding

Gene Mutation:

PCGP germline mutation
PCGP somatic mutation
COSMIC somatic mutation

PCGP germline mutation   [Top]

There is no record for MYOD1

PCGP somatic mutation   [Top]

Variant (Variant; Chr; Position)

Genotype (MutationType; MutationClass; ReferenceAllele; Genotype; Origin)

Disease (CancerType; ValidationStatus; SequencingType)

MYOD1_L122R; chr11; 17741694

 SUB; MISSENSE; T; G/G; SOMATICRHB; PUTATIVE-HQ; EXOME

COSMIC somatic mutation   [Top]

Mutation (CDS; AA; Chr)

Site

Histology

c.644_645insC; p.S218fs*60;

large_intestine; coloncarcinoma; adenocarcinoma

c.94G>A; p.D32N;

large_intestine; coloncarcinoma; adenocarcinoma

c.926C>T; p.A309V; 11:17699594-17699594

 breastcarcinoma; ductal_carcinoma

c.81C>T; p.D27D;

oesophaguscarcinoma; adenocarcinoma

c.77C>T; p.T26M;

oesophaguscarcinoma; adenocarcinoma

c.784G>A; p.E262K; 11:17699452-17699452

 breastcarcinoma; ductal_carcinoma

c.736G>A; p.V246M;

large_intestine; coloncarcinoma

c.907G>T; p.A303S;

livercarcinoma

c.364C>A; p.L122M;

lungcarcinoma; adenocarcinoma

c.183G>C; p.E61D;

lungcarcinoma; adenocarcinoma

c.441_442GG>AT; p.V147>?;

lungcarcinoma; adenocarcinoma

c.206_207TG>GT; p.V69>?;

lungcarcinoma; adenocarcinoma

c.352G>T; p.E118*;

lungcarcinoma; adenocarcinoma

c.489G>T; p.L163L;

lungcarcinoma; adenocarcinoma

c.944C>A; p.P315Q;

lungcarcinoma; adenocarcinoma

c.49G>A; p.D17N;

lungcarcinoma; adenocarcinoma

c.178G>T; p.E60*;

salivary_gland; parotidcarcinoma; adenoid_cystic_carcinoma

c.435C>T; p.P145P;

prostatecarcinoma

c.10C>A; p.L4M;

lungcarcinoma; small_cell_carcinoma

c.494G>T; p.R165L;

autonomic_ganglianeuroblastoma

c.203C>A; p.A68E;

lungcarcinoma; squamous_cell_carcinoma

c.114G>T; p.P38P; 11:17698019-17698019

 ovarycarcinoma; serous_carcinoma

c.684C>T; p.G228G;

lungcarcinoma; squamous_cell_carcinoma

c.693C>A; p.Y231*;

ovarycarcinoma; serous_carcinoma

c.916C>T; p.Q306*;

lungcarcinoma; adenocarcinoma

c.366G>A; p.L122L;

lungcarcinoma; squamous_cell_carcinoma

c.168C>T; p.L56L;

lung; right_upper_lobecarcinoma; adenocarcinoma

c.351C>A; p.R117R;

lungcarcinoma; squamous_cell_carcinoma

c.790C>A; p.P264T;

lungcarcinoma; adenocarcinoma

c.162C>A; p.G54G;

lungcarcinoma; squamous_cell_carcinoma

c.765C>T; p.I255I;

lung; right_upper_lobecarcinoma; adenocarcinoma

c.19C>A; p.P7T;

lungcarcinoma; adenocarcinoma

c.144G>A; p.P48P;

large_intestine; coloncarcinoma; adenocarcinoma

c.106G>A; p.D36N;

large_intestine; coloncarcinoma; adenocarcinoma

c.927G>C; p.A309A;

large_intestine; caecumcarcinoma; adenocarcinoma

c.105C>T; p.F35F;

large_intestine; coloncarcinoma; adenocarcinoma

c.28G>A; p.D10N;

endometriumcarcinoma; endometrioid_carcinoma

c.658G>A; p.A220T;

large_intestine; caecumcarcinoma; adenocarcinoma

c.408G>A; p.T136T;

large_intestine; caecumcarcinoma; adenocarcinoma

c.429G>A; p.R143R;

large_intestine; coloncarcinoma; adenocarcinoma

c.456C>T; p.N152N;

large_intestine; coloncarcinoma; adenocarcinoma

c.868G>A; p.E290K;

endometriumcarcinoma; endometrioid_carcinoma

c.129C>T; p.F43F;

large_intestine; coloncarcinoma; adenocarcinoma

c.352G>C; p.E118Q;

urinary_tract; bladdercarcinoma

c.361C>T; p.R121C;

endometriumcarcinoma; endometrioid_carcinoma

c.129C>T; p.F43F;

endometriumcarcinoma; endometrioid_carcinoma

c.113C>A; p.P38Q;

large_intestine; coloncarcinoma; adenocarcinoma

c.785A>G; p.E262G;

large_intestine; coloncarcinoma; adenocarcinoma

c.410C>T; p.S137L;

large_intestine; caecumcarcinoma; adenocarcinoma

c.31G>A; p.V11I;

large_intestine; caecumcarcinoma; adenocarcinoma

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