ClinVar

NM_001927.4(DES):c.1009G>C (p.Ala337Pro)

Gene:

DES:desmin [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

2q35

Genomic location:

• Chr2: 219420939 (on Assembly GRCh38)
• Chr2: 220285661 (on Assembly GRCh37)

Preferred name:

NM_001927.4(DES):c.1009G>C (p.Ala337Pro)

HGVS:

• NC_000002.12:g.219420939G>C
• NG_008043.1:g.7563G>C
• NM_001927.4:c.1009G>CMANE SELECT
• NP_001918.3:p.Ala337Pro
• LRG_380t1:c.1009G>C
• LRG_380:g.7563G>C
• LRG_380p1:p.Ala337Pro
• NC_000002.11:g.220285661G>C
• NM_001927.3:c.1009G>C
• P17661:p.Ala337Pro

This HGVS expression did not pass validation

Protein change:

A337P; ALA337PRO

Links:

UniProtKB: P17661#VAR_007900; OMIM: 125660.0001; dbSNP: rs59962885

NCBI 1000 Genomes Browser:

rs59962885

Molecular consequence:

• NM_001927.4:c.1009G>C - missense variant - [Sequence Ontology: SO:0001583]

Functional consequence:

variation affecting protein [Variation Ontology: 0002]