ClinVar

NM_016592.5(GNAS):c.409C>T (p.Pro137Ser)

Genes:

GNAS-AS1:GNAS antisense RNA 1 [Gene - OMIM - HGNC]
GNAS:GNAS complex locus [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

20q13.32

Genomic location:

• Chr20: 58840515 (on Assembly GRCh38)
• Chr20: 57415570 (on Assembly GRCh37)

Preferred name:

NM_016592.5(GNAS):c.409C>T (p.Pro137Ser)

HGVS:

• NC_000020.11:g.58840515C>T
• NG_016194.2:g.5776C>T
• NG_021433.1:g.15389G>A
• NM_001410912.1:c.-329C>T
• NM_016592.5:c.409C>T
• NP_057676.1:p.Pro137Ser
• LRG_1051:g.15389G>A
• NC_000020.10:g.57415570C>T
• NM_016592.2:c.409C>T

This HGVS expression did not pass validation

Protein change:

P137S

Links:

dbSNP: rs779401973

NCBI 1000 Genomes Browser:

rs779401973

Molecular consequence:

• NM_001410912.1:c.-329C>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_016592.5:c.409C>T - missense variant - [Sequence Ontology: SO:0001583]

Observations:

1