ClinVar

NM_005633.4(SOS1):c.1352C>A (p.Thr451Lys)

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: 39023076 (on Assembly GRCh38)
• Chr2: 39250217 (on Assembly GRCh37)

Preferred name:

NM_005633.4(SOS1):c.1352C>A (p.Thr451Lys)

HGVS:

• NC_000002.12:g.39023076G>T
• NG_007530.1:g.102388C>A
• NM_001382394.1:c.1331C>A
• NM_001382395.1:c.1352C>A
• NM_005633.4:c.1352C>AMANE SELECT
• NP_001369323.1:p.Thr444Lys
• NP_001369324.1:p.Thr451Lys
• NP_005624.2:p.Thr451Lys
• NP_005624.2:p.Thr451Lys
• LRG_754t1:c.1352C>A
• LRG_754:g.102388C>A
• LRG_754p1:p.Thr451Lys
• NC_000002.11:g.39250217G>T
• NM_005633.3:c.1352C>A

This HGVS expression did not pass validation

Protein change:

T444K

Links:

dbSNP: rs730880218

NCBI 1000 Genomes Browser:

rs730880218

Molecular consequence:

• NM_001382394.1:c.1331C>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001382395.1:c.1352C>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_005633.4:c.1352C>A - missense variant - [Sequence Ontology: SO:0001583]

Observations:

1