ClinVar

NM_004327.4(BCR):c.2845G>A (p.Val949Ile)

Genes:

BCR:BCR activator of RhoGEF and GTPase [Gene - OMIM - HGNC]
LOC107963955:BCR-ABL major-breakpoint cluster region [Gene]

Variant type:

single nucleotide variant

Cytogenetic location:

22q11.23

Genomic location:

• Chr22: 23292603 (on Assembly GRCh38)
• Chr22: 23634790 (on Assembly GRCh37)

Preferred name:

NM_004327.4(BCR):c.2845G>A (p.Val949Ile)

HGVS:

• NC_000022.11:g.23292603G>A
• NG_009244.2:g.117239G>A
• NG_050673.1:g.3055G>A
• NM_004327.4:c.2845G>AMANE SELECT
• NM_021574.3:c.2845G>A
• NP_004318.3:p.Val949Ile
• NP_067585.2:p.Val949Ile
• LRG_1112t1:c.2845G>A
• LRG_1112:g.117239G>A
• LRG_1112p1:p.Val949Ile
• NC_000022.10:g.23634790G>A
• NG_009244.1:g.117239G>A
• NM_004327.3:c.2845G>A
• P11274:p.Val949Ile

This HGVS expression did not pass validation

Protein change:

V949I

Links:

UniProtKB: P11274#VAR_041887; dbSNP: rs2229038

NCBI 1000 Genomes Browser:

rs2229038

Molecular consequence:

• NM_004327.4:c.2845G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_021574.3:c.2845G>A - missense variant - [Sequence Ontology: SO:0001583]