ClinVar

NM_080425.4(GNAS):c.913T>C (p.Ser305Pro)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

20q13.32

Genomic location:

• Chr20: 58854178 (on Assembly GRCh38)
• Chr20: 57429233 (on Assembly GRCh37)

Preferred name:

NM_080425.4(GNAS):c.913T>C (p.Ser305Pro)

HGVS:

• NC_000020.11:g.58854178T>C
• NG_016194.2:g.19439T>C
• NG_021433.1:g.1726A>G
• NM_001077490.3:c.726T>C
• NM_001309861.2:c.-39+12303T>C
• NM_001309883.1:c.726T>C
• NM_001410912.1:c.43+13292T>C
• NM_001410913.1:c.913T>C
• NM_016592.5:c.*42+13292T>C
• NM_080425.4:c.913T>C
• NP_001070958.1:p.Ser242=
• NP_001296812.1:p.Ser242=
• NP_001397842.1:p.Ser305Pro
• NP_536350.2:p.Ser305Pro
• LRG_1051:g.1726A>G
• NC_000020.10:g.57429233T>C
• NM_000516.5:c.-37549T>C
• NM_080425.3:c.913T>C

This HGVS expression did not pass validation

Protein change:

S305P

Links:

dbSNP: rs376517306

NCBI 1000 Genomes Browser:

rs376517306

Molecular consequence:

• NM_001309861.2:c.-39+12303T>C - intron variant - [Sequence Ontology: SO:0001627]
• NM_001410912.1:c.43+13292T>C - intron variant - [Sequence Ontology: SO:0001627]
• NM_016592.5:c.*42+13292T>C - intron variant - [Sequence Ontology: SO:0001627]
• NM_001410913.1:c.913T>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_080425.4:c.913T>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001077490.3:c.726T>C - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001309883.1:c.726T>C - synonymous variant - [Sequence Ontology: SO:0001819]