ClinVar

NM_080425.4(GNAS):c.1130G>T (p.Gly377Val)

Gene:

GNAS:GNAS complex locus [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

20q13.32

Genomic location:

• Chr20: 58854395 (on Assembly GRCh38)
• Chr20: 57429450 (on Assembly GRCh37)

Preferred name:

NM_080425.4(GNAS):c.1130G>T (p.Gly377Val)

HGVS:

• NC_000020.11:g.58854395G>T
• NG_016194.2:g.19656G>T
• NG_021433.1:g.1509C>A
• NM_001077490.3:c.943G>T
• NM_001309861.2:c.-39+12520G>T
• NM_001309883.1:c.943G>T
• NM_001410912.1:c.43+13509G>T
• NM_001410913.1:c.1130G>T
• NM_016592.5:c.*42+13509G>T
• NM_080425.4:c.1130G>T
• NP_001070958.1:p.Gly315Cys
• NP_001296812.1:p.Gly315Cys
• NP_001397842.1:p.Gly377Val
• NP_536350.2:p.Gly377Val
• LRG_1051:g.1509C>A
• NC_000020.10:g.57429450G>T
• NM_080425.3:c.1130G>T

This HGVS expression did not pass validation

Protein change:

G315C

Links:

dbSNP: rs778121381

NCBI 1000 Genomes Browser:

rs778121381

Molecular consequence:

• NM_001309861.2:c.-39+12520G>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001410912.1:c.43+13509G>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_016592.5:c.*42+13509G>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001077490.3:c.943G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001309883.1:c.943G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001410913.1:c.1130G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_080425.4:c.1130G>T - missense variant - [Sequence Ontology: SO:0001583]

Observations:

1