ClinVar

NM_000516.7(GNAS):c.393C>T (p.Ile131=)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

20q13.32

Genomic location:

• Chr20: 58903752 (on Assembly GRCh38)
• Chr20: 57478807 (on Assembly GRCh37)

Preferred name:

NM_000516.7(GNAS):c.393C>T (p.Ile131=)

HGVS:

• NC_000020.11:g.58903752C>T
• NG_016194.2:g.69013C>T
• NM_000516.7:c.393C>TMANE SELECT
• NM_001077488.5:c.396C>T
• NM_001077489.4:c.348C>T
• NM_001077490.3:c.*254C>T
• NM_001309840.2:c.216C>T
• NM_001309861.2:c.216C>T
• NM_016592.5:c.*299C>T
• NM_080425.4:c.2322C>T
• NM_080426.4:c.351C>T
• NP_000507.1:p.Ile131=
• NP_001070956.1:p.Ile132=
• NP_001070957.1:p.Ile116=
• NP_001296769.1:p.Ile72=
• NP_001296790.1:p.Ile72=
• NP_536350.2:p.Ile774=
• NP_536351.1:p.Ile117=
• NC_000020.10:g.57478807C>T
• NM_000516.4:c.393C>T
• NM_016592.4:c.*299C>T
• NM_080425.2:c.2322C>T
• p.Ile774Ile

This HGVS expression did not pass validation

Links:

dbSNP: rs7121

NCBI 1000 Genomes Browser:

rs7121

Molecular consequence:

• NM_001077490.3:c.*254C>T - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
• NM_016592.5:c.*299C>T - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
• NM_000516.7:c.393C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001077488.5:c.396C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001077489.4:c.348C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001309840.2:c.216C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001309861.2:c.216C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_080425.4:c.2322C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_080426.4:c.351C>T - synonymous variant - [Sequence Ontology: SO:0001819]