ClinVar

NM_002103.5(GYS1):c.1349A>T (p.Asp450Val)

Gene:

GYS1:glycogen synthase 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

19q13.33

Genomic location:

• Chr19: 48974693 (on Assembly GRCh38)
• Chr19: 49477950 (on Assembly GRCh37)

Preferred name:

NM_002103.5(GYS1):c.1349A>T (p.Asp450Val)

HGVS:

• NC_000019.10:g.48974693T>A
• NG_012923.1:g.23661A>T
• NM_001161587.2:c.1157A>T
• NM_002103.5:c.1349A>TMANE SELECT
• NP_001155059.1:p.Asp386Val
• NP_002094.2:p.Asp450Val
• NC_000019.9:g.49477950T>A
• NR_027763.2:n.1364A>T

This HGVS expression did not pass validation

Protein change:

D386V

Molecular consequence:

• NM_001161587.2:c.1157A>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_002103.5:c.1349A>T - missense variant - [Sequence Ontology: SO:0001583]
• NR_027763.2:n.1364A>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Observations:

1