ClinVar

NM_002103.5(GYS1):c.1318T>C (p.Phe440Leu)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

19q13.33

Genomic location:

• Chr19: 48974724 (on Assembly GRCh38)
• Chr19: 49477981 (on Assembly GRCh37)

Preferred name:

NM_002103.5(GYS1):c.1318T>C (p.Phe440Leu)

HGVS:

• NC_000019.10:g.48974724A>G
• NG_012923.1:g.23630T>C
• NM_001161587.2:c.1126T>C
• NM_002103.5:c.1318T>CMANE SELECT
• NP_001155059.1:p.Phe376Leu
• NP_002094.2:p.Phe440Leu
• NC_000019.9:g.49477981A>G
• NR_027763.2:n.1333T>C

This HGVS expression did not pass validation

Protein change:

F376L

Links:

dbSNP: rs756191455

NCBI 1000 Genomes Browser:

rs756191455

Molecular consequence:

• NM_001161587.2:c.1126T>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_002103.5:c.1318T>C - missense variant - [Sequence Ontology: SO:0001583]
• NR_027763.2:n.1333T>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Observations:

1