ClinVar

NM_005633.4(SOS1):c.697A>T (p.Asn233Tyr)

Gene:

SOS1:SOS Ras/Rac guanine nucleotide exchange factor 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

2p22.1

Genomic location:

• Chr2: 39054637 (on Assembly GRCh38)
• Chr2: 39281778 (on Assembly GRCh37)

Preferred name:

NM_005633.4(SOS1):c.697A>T (p.Asn233Tyr)

HGVS:

• NC_000002.12:g.39054637T>A
• NG_007530.1:g.70827A>T
• NM_001382394.1:c.676A>T
• NM_001382395.1:c.697A>T
• NM_005633.4:c.697A>TMANE SELECT
• NP_001369323.1:p.Asn226Tyr
• NP_001369324.1:p.Asn233Tyr
• NP_005624.2:p.Asn233Tyr
• LRG_754:g.70827A>T
• NC_000002.11:g.39281778T>A

This HGVS expression did not pass validation

Protein change:

N226Y

Links:

dbSNP: rs1057519963

NCBI 1000 Genomes Browser:

rs1057519963

Molecular consequence:

• NM_001382394.1:c.676A>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001382395.1:c.697A>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_005633.4:c.697A>T - missense variant - [Sequence Ontology: SO:0001583]