ClinVar

NM_000257.4(MYH7):c.4972G>A (p.Asp1658Asn)

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: 23415814 (on Assembly GRCh38)
• Chr14: 23885023 (on Assembly GRCh37)

Preferred name:

NM_000257.4(MYH7):c.4972G>A (p.Asp1658Asn)

HGVS:

• NC_000014.9:g.23415814C>T
• NG_007884.1:g.24848G>A
• NG_086395.1:g.669C>T
• NM_000257.4:c.4972G>AMANE SELECT
• NM_001407004.1:c.4972G>A
• NP_000248.2:p.Asp1658Asn
• NP_000248.2:p.Asp1658Asn
• NP_001393933.1:p.Asp1658Asn
• LRG_384t1:c.4972G>A
• LRG_384:g.24848G>A
• LRG_384p1:p.Asp1658Asn
• NC_000014.8:g.23885023C>T
• NM_000257.2:c.4972G>A
• NR_126491.1:n.246C>T

This HGVS expression did not pass validation

Protein change:

D1658N

Molecular consequence:

• NM_000257.4:c.4972G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001407004.1:c.4972G>A - missense variant - [Sequence Ontology: SO:0001583]
• NR_126491.1:n.246C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Observations:

1