ClinVar

NM_005633.4(SOS1):c.2369T>C (p.Leu790Ser)

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: 39012147 (on Assembly GRCh38)
• Chr2: 39239288 (on Assembly GRCh37)

Preferred name:

NM_005633.4(SOS1):c.2369T>C (p.Leu790Ser)

HGVS:

• NC_000002.12:g.39012147A>G
• NG_007530.1:g.113317T>C
• NM_001382394.1:c.2348T>C
• NM_001382395.1:c.2369T>C
• NM_005633.4:c.2369T>CMANE SELECT
• NP_001369323.1:p.Leu783Ser
• NP_001369324.1:p.Leu790Ser
• NP_005624.2:p.Leu790Ser
• LRG_754t1:c.2369T>C
• LRG_754:g.113317T>C
• NC_000002.11:g.39239288A>G
• NM_005633.3:c.2369T>C
• NM_005633.4:c.2369T>C

This HGVS expression did not pass validation

Protein change:

L783S

Links:

dbSNP: rs139859866

NCBI 1000 Genomes Browser:

rs139859866

Molecular consequence:

• NM_001382394.1:c.2348T>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001382395.1:c.2369T>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_005633.4:c.2369T>C - missense variant - [Sequence Ontology: SO:0001583]