ClinVar

NM_080425.4(GNAS):c.344G>A (p.Trp115Ter)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

20q13.32

Genomic location:

• Chr20: 58853609 (on Assembly GRCh38)
• Chr20: 57428664 (on Assembly GRCh37)

Preferred name:

NM_080425.4(GNAS):c.344G>A (p.Trp115Ter)

HGVS:

• NC_000020.11:g.58853609G>A
• NG_016194.2:g.18870G>A
• NG_021433.1:g.2295C>T
• NM_001077490.3:c.157G>A
• NM_001309861.2:c.-39+11734G>A
• NM_001309883.1:c.157G>A
• NM_001410912.1:c.43+12723G>A
• NM_001410913.1:c.344G>A
• NM_016592.5:c.*42+12723G>A
• NM_080425.4:c.344G>A
• NP_001070958.1:p.Gly53Ser
• NP_001296812.1:p.Gly53Ser
• NP_001397842.1:p.Trp115Ter
• NP_536350.2:p.Trp115Ter
• LRG_1051:g.2295C>T
• NC_000020.10:g.57428664G>A

This HGVS expression did not pass validation

Protein change:

G53S

Molecular consequence:

• NM_001309861.2:c.-39+11734G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_001410912.1:c.43+12723G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_016592.5:c.*42+12723G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_001077490.3:c.157G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001309883.1:c.157G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001410913.1:c.344G>A - nonsense - [Sequence Ontology: SO:0001587]
• NM_080425.4:c.344G>A - nonsense - [Sequence Ontology: SO:0001587]