ClinVar

NM_006939.4(SOS2):c.782T>C (p.Ile261Thr)

Gene:

SOS2:SOS Ras/Rho guanine nucleotide exchange factor 2 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

14q21.3

Genomic location:

• Chr14: 50182539 (on Assembly GRCh38)
• Chr14: 50649257 (on Assembly GRCh37)

Preferred name:

NM_006939.4(SOS2):c.782T>C (p.Ile261Thr)

HGVS:

• NC_000014.9:g.50182539A>G
• NG_051073.1:g.54155T>C
• NM_001411020.1:c.782T>C
• NM_006939.4:c.782T>CMANE SELECT
• NP_001397949.1:p.Ile261Thr
• NP_008870.2:p.Ile261Thr
• NC_000014.8:g.50649257A>G

This HGVS expression did not pass validation

Protein change:

I261T

Molecular consequence:

• NM_001411020.1:c.782T>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_006939.4:c.782T>C - missense variant - [Sequence Ontology: SO:0001583]