ClinVar

NM_005633.4(SOS1):c.487A>G (p.Lys163Glu)

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: 39056725 (on Assembly GRCh38)
• Chr2: 39283866 (on Assembly GRCh37)

Preferred name:

NM_005633.4(SOS1):c.487A>G (p.Lys163Glu)

HGVS:

• NC_000002.12:g.39056725T>C
• NG_007530.1:g.68739A>G
• NM_001382394.1:c.466A>G
• NM_001382395.1:c.487A>G
• NM_005633.4:c.487A>GMANE SELECT
• NP_001369323.1:p.Lys156Glu
• NP_001369324.1:p.Lys163Glu
• NP_005624.2:p.Lys163Glu
• LRG_754:g.68739A>G
• NC_000002.11:g.39283866T>C

This HGVS expression did not pass validation

Protein change:

K156E

Links:

dbSNP: rs886042206

NCBI 1000 Genomes Browser:

rs886042206

Molecular consequence:

• NM_001382394.1:c.466A>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_001382395.1:c.487A>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_005633.4:c.487A>G - missense variant - [Sequence Ontology: SO:0001583]

Observations:

2