ClinVar

NM_005633.4(SOS1):c.1385T>A (p.Phe462Tyr)

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: 39023043 (on Assembly GRCh38)
• Chr2: 39250184 (on Assembly GRCh37)

Preferred name:

NM_005633.4(SOS1):c.1385T>A (p.Phe462Tyr)

Other names:

p.F462Y:TTT>TAT

HGVS:

• NC_000002.12:g.39023043A>T
• NG_007530.1:g.102421T>A
• NM_001382394.1:c.1364T>A
• NM_001382395.1:c.1385T>A
• NM_005633.4:c.1385T>AMANE SELECT
• NP_001369323.1:p.Phe455Tyr
• NP_001369324.1:p.Phe462Tyr
• NP_005624.2:p.Phe462Tyr
• NP_005624.2:p.Phe462Tyr
• LRG_754t1:c.1385T>A
• LRG_754:g.102421T>A
• LRG_754p1:p.Phe462Tyr
• NC_000002.11:g.39250184A>T
• NM_005633.3:c.1385T>A

This HGVS expression did not pass validation

Protein change:

F455Y

Links:

dbSNP: rs730881043

NCBI 1000 Genomes Browser:

rs730881043

Molecular consequence:

• NM_001382394.1:c.1364T>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001382395.1:c.1385T>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_005633.4:c.1385T>A - missense variant - [Sequence Ontology: SO:0001583]