ClinVar

NM_080425.4(GNAS):c.1200C>A (p.Ala400=)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

20q13.32

Genomic location:

• Chr20: 58854465 (on Assembly GRCh38)
• Chr20: 57429520 (on Assembly GRCh37)

Preferred name:

NM_080425.4(GNAS):c.1200C>A (p.Ala400=)

HGVS:

• NC_000020.11:g.58854465C>A
• NG_016194.2:g.19726C>A
• NG_021433.1:g.1439G>T
• NM_001077490.3:c.1013C>A
• NM_001309861.2:c.-39+12590C>A
• NM_001309883.1:c.1013C>A
• NM_001410912.1:c.43+13579C>A
• NM_001410913.1:c.1200C>A
• NM_016592.5:c.*42+13579C>A
• NM_080425.4:c.1200C>A
• NP_001070958.1:p.Pro338Gln
• NP_001296812.1:p.Pro338Gln
• NP_001397842.1:p.Ala400=
• NP_536350.2:p.Ala400=
• LRG_1051:g.1439G>T
• NC_000020.10:g.57429520C>A
• NM_080425.2:c.1200C>A

This HGVS expression did not pass validation

Protein change:

P338Q

Links:

dbSNP: rs908810796

NCBI 1000 Genomes Browser:

rs908810796

Molecular consequence:

• NM_001309861.2:c.-39+12590C>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_001410912.1:c.43+13579C>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_016592.5:c.*42+13579C>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_001077490.3:c.1013C>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001309883.1:c.1013C>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001410913.1:c.1200C>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_080425.4:c.1200C>A - synonymous variant - [Sequence Ontology: SO:0001819]