17:8395665-8395665 G > A

Classification

Category 2 premature_stop
CMH MAF 4 / 13105 samples (0.0305%)
4 het., 0 hom. (100%)
4 / 26210 total alleles (0.0153%)

gene: MYH10 synonym(s): NMMHC-IIB, NMMHCB, MYH10, ENSG00000133026

ENST00000360416.3 [CDS]
hgvs_c: ENST00000360416.3:c.4621C>T
reference AA: R
variant AA: *
reference codon: Cga
variant codon: Tga
cDNA pos: 4760
CDS pos: 4621
translation impact: premature_stop
protein sequence: ENSP00000353590.3
AA pos: 1541
hgvs_p: ENSP00000353590.3:p.Arg1541Ter
blosum: -4

COSMIC Mutation ID = COSV52595341
COSMIC_FATHMM_PREDICTION = PATHOGENIC
COSMIC_MUTATION_SOMATIC_STATUS = false