ClinVar

NM_002471.4(MYH6):c.3583C>T (p.Arg1195Cys)

Gene:

MYH6:myosin heavy chain 6 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

14q11.2

Genomic location:

• Chr14: 23390206 (on Assembly GRCh38)
• Chr14: 23859415 (on Assembly GRCh37)

Preferred name:

NM_002471.4(MYH6):c.3583C>T (p.Arg1195Cys)

HGVS:

• NC_000014.9:g.23390206G>A
• NG_023444.1:g.23072C>T
• NM_002471.4:c.3583C>TMANE SELECT
• NP_002462.2:p.Arg1195Cys
• NP_002462.2:p.Arg1195Cys
• LRG_389t1:c.3583C>T
• LRG_389:g.23072C>T
• LRG_389p1:p.Arg1195Cys
• NC_000014.8:g.23859415G>A
• NM_002471.3:c.3583C>T

This HGVS expression did not pass validation

Protein change:

R1195C

Links:

dbSNP: rs769756450

NCBI 1000 Genomes Browser:

rs769756450

Molecular consequence:

• NM_002471.4:c.3583C>T - missense variant - [Sequence Ontology: SO:0001583]