ClinVar

NM_080425.4(GNAS):c.475G>A (p.Glu159Lys)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

20q13.32

Genomic location:

• Chr20: 58853740 (on Assembly GRCh38)
• Chr20: 57428795 (on Assembly GRCh37)

Preferred name:

NM_080425.4(GNAS):c.475G>A (p.Glu159Lys)

HGVS:

• NC_000020.11:g.58853740G>A
• NG_016194.2:g.19001G>A
• NG_021433.1:g.2164C>T
• NM_001077490.3:c.288G>A
• NM_001309861.2:c.-39+11865G>A
• NM_001309883.1:c.288G>A
• NM_001410912.1:c.43+12854G>A
• NM_001410913.1:c.475G>A
• NM_016592.5:c.*42+12854G>A
• NM_080425.4:c.475G>A
• NP_001070958.1:p.Gln96=
• NP_001296812.1:p.Gln96=
• NP_001397842.1:p.Glu159Lys
• NP_536350.2:p.Glu159Lys
• LRG_1051:g.2164C>T
• NC_000020.10:g.57428795G>A
• NM_080425.3:c.475G>A

This HGVS expression did not pass validation

Protein change:

E159K

Links:

dbSNP: rs1135401777

NCBI 1000 Genomes Browser:

rs1135401777

Molecular consequence:

• NM_001309861.2:c.-39+11865G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_001410912.1:c.43+12854G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_016592.5:c.*42+12854G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_001410913.1:c.475G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_080425.4:c.475G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001077490.3:c.288G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001309883.1:c.288G>A - synonymous variant - [Sequence Ontology: SO:0001819]