ClinVar

NM_000257.4(MYH7):c.4767C>T (p.Asn1589=)

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: 23416190 (on Assembly GRCh38)
• Chr14: 23885399 (on Assembly GRCh37)

Preferred name:

NM_000257.4(MYH7):c.4767C>T (p.Asn1589=)

HGVS:

• NC_000014.9:g.23416190G>A
• NG_007884.1:g.24472C>T
• NG_086395.1:g.1045G>A
• NM_000257.4:c.4767C>TMANE SELECT
• NM_001407004.1:c.4767C>T
• NP_000248.2:p.Asn1589=
• NP_000248.2:p.Asn1589=
• NP_001393933.1:p.Asn1589=
• LRG_384t1:c.4767C>T
• LRG_384:g.24472C>T
• LRG_384p1:p.Asn1589=
• NC_000014.8:g.23885399G>A
• NM_000257.2:c.4767C>T
• NR_126491.1:n.451G>A

This HGVS expression did not pass validation

Molecular consequence:

• NR_126491.1:n.451G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NM_000257.4:c.4767C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001407004.1:c.4767C>T - synonymous variant - [Sequence Ontology: SO:0001819]

Observations:

1