ClinVar

NM_000257.4(MYH7):c.4909G>A (p.Ala1637Thr)

Genes:

LOC126861897:BRD4-independent group 4 enhancer GRCh37_chr14:23884455-23885654 [Gene]
MYH7:myosin heavy chain 7 [Gene - OMIM - HGNC]
MHRT:myosin heavy chain associated RNA transcript [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

14q11.2

Genomic location:

• Chr14: 23416048 (on Assembly GRCh38)
• Chr14: 23885257 (on Assembly GRCh37)

Preferred name:

NM_000257.4(MYH7):c.4909G>A (p.Ala1637Thr)

Other names:

p.A1637T:GCC>ACC; NM_000257.3(MYH7):c.4909G>A

HGVS:

• NC_000014.9:g.23416048C>T
• NG_007884.1:g.24614G>A
• NM_000257.4:c.4909G>AMANE SELECT
• NP_000248.2:p.Ala1637Thr
• LRG_384t1:c.4909G>A
• LRG_384:g.24614G>A
• NC_000014.8:g.23885257C>T
• NM_000257.2:c.4909G>A
• NM_000257.3:c.4909G>A
• NR_126491.1:n.309C>T
• c.4909G>A

This HGVS expression did not pass validation

Protein change:

A1637T

Links:

dbSNP: rs141122361

NCBI 1000 Genomes Browser:

rs141122361

Molecular consequence:

• NM_000257.4:c.4909G>A - missense variant - [Sequence Ontology: SO:0001583]
• NR_126491.1:n.309C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Observations:

1