ClinVar

NM_005633.4(SOS1):c.3387C>T (p.Gly1129=)

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: 38989274 (on Assembly GRCh38)
• Chr2: 39216415 (on Assembly GRCh37)

Preferred name:

NM_005633.4(SOS1):c.3387C>T (p.Gly1129=)

HGVS:

• NC_000002.12:g.38989274G>A
• NG_007530.1:g.136190C>T
• NM_001382394.1:c.3366C>T
• NM_001382395.1:c.3347-1683C>T
• NM_005633.4:c.3387C>TMANE SELECT
• NP_001369323.1:p.Gly1122=
• NP_005624.2:p.Gly1129=
• NP_005624.2:p.Gly1129=
• LRG_754t1:c.3387C>T
• LRG_754:g.136190C>T
• LRG_754p1:p.Gly1129=
• NC_000002.11:g.39216415G>A
• NM_005633.3:c.3387C>T

This HGVS expression did not pass validation

Links:

dbSNP: rs772823827

NCBI 1000 Genomes Browser:

rs772823827

Molecular consequence:

• NM_001382395.1:c.3347-1683C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001382394.1:c.3366C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_005633.4:c.3387C>T - synonymous variant - [Sequence Ontology: SO:0001819]

Observations:

1