ClinVar

NM_005633.4(SOS1):c.1269C>G (p.Asn423Lys)

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: 39023159 (on Assembly GRCh38)
• Chr2: 39250300 (on Assembly GRCh37)

Preferred name:

NM_005633.4(SOS1):c.1269C>G (p.Asn423Lys)

Other names:

p.N423K:AAC>AAG

HGVS:

• NC_000002.12:g.39023159G>C
• NG_007530.1:g.102305C>G
• NM_001382394.1:c.1248C>G
• NM_001382395.1:c.1269C>G
• NM_005633.4:c.1269C>GMANE SELECT
• NP_001369323.1:p.Asn416Lys
• NP_001369324.1:p.Asn423Lys
• NP_005624.2:p.Asn423Lys
• NP_005624.2:p.Asn423Lys
• LRG_754t1:c.1269C>G
• LRG_754:g.102305C>G
• LRG_754p1:p.Asn423Lys
• NC_000002.11:g.39250300G>C
• NM_005633.3:c.1269C>G

This HGVS expression did not pass validation

Protein change:

N416K

Links:

dbSNP: rs138459502

NCBI 1000 Genomes Browser:

rs138459502

Molecular consequence:

• NM_001382394.1:c.1248C>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_001382395.1:c.1269C>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_005633.4:c.1269C>G - missense variant - [Sequence Ontology: SO:0001583]