ClinVar

NM_005633.4(SOS1):c.1829T>C (p.Ile610Thr)

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: 39022599 (on Assembly GRCh38)
• Chr2: 39249740 (on Assembly GRCh37)

Preferred name:

NM_005633.4(SOS1):c.1829T>C (p.Ile610Thr)

HGVS:

• NC_000002.12:g.39022599A>G
• NG_007530.1:g.102865T>C
• NM_001382394.1:c.1808T>C
• NM_001382395.1:c.1829T>C
• NM_005633.4:c.1829T>CMANE SELECT
• NP_001369323.1:p.Ile603Thr
• NP_001369324.1:p.Ile610Thr
• NP_005624.2:p.Ile610Thr
• NP_005624.2:p.Ile610Thr
• LRG_754t1:c.1829T>C
• LRG_754:g.102865T>C
• LRG_754p1:p.Ile610Thr
• NC_000002.11:g.39249740A>G
• NM_005633.3:c.1829T>C

This HGVS expression did not pass validation

Protein change:

I603T

Links:

dbSNP: rs776146535

NCBI 1000 Genomes Browser:

rs776146535

Molecular consequence:

• NM_001382394.1:c.1808T>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001382395.1:c.1829T>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_005633.4:c.1829T>C - missense variant - [Sequence Ontology: SO:0001583]

Observations:

2