ClinVar

NM_080425.4(GNAS):c.958G>A (p.Asp320Asn)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

20q13.32

Genomic location:

• Chr20: 58854223 (on Assembly GRCh38)
• Chr20: 57429278 (on Assembly GRCh37)

Preferred name:

NM_080425.4(GNAS):c.958G>A (p.Asp320Asn)

HGVS:

• NC_000020.11:g.58854223G>A
• NG_016194.2:g.19484G>A
• NG_021433.1:g.1681C>T
• NM_000516.7:c.-37504G>AMANE SELECT
• NM_001077490.3:c.771G>A
• NM_001309861.2:c.-39+12348G>A
• NM_001309883.1:c.771G>A
• NM_001410912.1:c.43+13337G>A
• NM_001410913.1:c.958G>A
• NM_016592.5:c.*42+13337G>A
• NM_080425.4:c.958G>A
• NP_001070958.1:p.Thr257=
• NP_001296812.1:p.Thr257=
• NP_001397842.1:p.Asp320Asn
• NP_536350.2:p.Asp320Asn
• LRG_1051:g.1681C>T
• NC_000020.10:g.57429278G>A
• NM_000516.5:c.-37504G>A
• NM_080425.3:c.958G>A

This HGVS expression did not pass validation

Protein change:

D320N

Links:

dbSNP: rs201342585

NCBI 1000 Genomes Browser:

rs201342585

Molecular consequence:

• NM_000516.7:c.-37504G>A - genic upstream transcript variant - [Sequence Ontology: SO:0002153]
• NM_001309861.2:c.-39+12348G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_001410912.1:c.43+13337G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_016592.5:c.*42+13337G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_001410913.1:c.958G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_080425.4:c.958G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001077490.3:c.771G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001309883.1:c.771G>A - synonymous variant - [Sequence Ontology: SO:0001819]