ClinVar

NM_005633.4(SOS1):c.1405A>T (p.Ile469Phe)

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: 39023023 (on Assembly GRCh38)
• Chr2: 39250164 (on Assembly GRCh37)

Preferred name:

NM_005633.4(SOS1):c.1405A>T (p.Ile469Phe)

HGVS:

• NC_000002.12:g.39023023T>A
• NG_007530.1:g.102441A>T
• NM_001382394.1:c.1384A>T
• NM_001382395.1:c.1405A>T
• NM_005633.4:c.1405A>TMANE SELECT
• NP_001369323.1:p.Ile462Phe
• NP_001369324.1:p.Ile469Phe
• NP_005624.2:p.Ile469Phe
• LRG_754t1:c.1405A>T
• LRG_754:g.102441A>T
• NC_000002.11:g.39250164T>A
• NM_005633.3:c.1405A>T

This HGVS expression did not pass validation

Protein change:

I462F

Links:

Molecular consequence:

• NM_001382394.1:c.1384A>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001382395.1:c.1405A>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_005633.4:c.1405A>T - missense variant - [Sequence Ontology: SO:0001583]

Observations:

1