ClinVar

NM_000516.7(GNAS):c.344C>T (p.Pro115Leu)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

20q13.32

Genomic location:

• Chr20: 58903703 (on Assembly GRCh38)
• Chr20: 57478758 (on Assembly GRCh37)

Preferred name:

NM_000516.7(GNAS):c.344C>T (p.Pro115Leu)

HGVS:

• NC_000020.11:g.58903703C>T
• NG_016194.2:g.68964C>T
• NM_000516.7:c.344C>TMANE SELECT
• NM_001077488.5:c.347C>T
• NM_001077489.4:c.299C>T
• NM_001077490.3:c.*205C>T
• NM_001309840.2:c.167C>T
• NM_001309861.2:c.167C>T
• NM_016592.5:c.*250C>T
• NM_080425.4:c.2273C>T
• NM_080426.4:c.302C>T
• NP_000507.1:p.Pro115Leu
• NP_001070956.1:p.Pro116Leu
• NP_001070957.1:p.Pro100Leu
• NP_001296769.1:p.Pro56Leu
• NP_001296790.1:p.Pro56Leu
• NP_536350.2:p.Pro758Leu
• NP_536351.1:p.Pro101Leu
• NC_000020.10:g.57478758C>T
• NM_000516.4:c.344C>T
• NM_000516.5:c.344C>T

This HGVS expression did not pass validation

Protein change:

P100L; PRO115LEU

Links:

OMIM: 139320.0029; dbSNP: rs137854539

NCBI 1000 Genomes Browser:

rs137854539

Molecular consequence:

• NM_001077490.3:c.*205C>T - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
• NM_016592.5:c.*250C>T - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
• NM_000516.7:c.344C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001077488.5:c.347C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001077489.4:c.299C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001309840.2:c.167C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001309861.2:c.167C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_080425.4:c.2273C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_080426.4:c.302C>T - missense variant - [Sequence Ontology: SO:0001583]