ClinVar

NM_000057.4(BLM):c.2887C>T (p.His963Tyr)

Gene:

BLM:BLM RecQ like helicase [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

15q26.1

Genomic location:

• Chr15: 90790712 (on Assembly GRCh38)
• Chr15: 91333942 (on Assembly GRCh37)

Preferred name:

NM_000057.4(BLM):c.2887C>T (p.His963Tyr)

HGVS:

• NC_000015.10:g.90790712C>T
• NG_007272.1:g.78341C>T
• NM_000057.4:c.2887C>TMANE SELECT
• NM_001287246.2:c.2887C>T
• NM_001287247.2:c.2887C>T
• NM_001287248.2:c.1762C>T
• NP_000048.1:p.His963Tyr
• NP_001274175.1:p.His963Tyr
• NP_001274176.1:p.His963Tyr
• NP_001274177.1:p.His588Tyr
• LRG_20t1:c.2887C>T
• LRG_20:g.78341C>T
• NC_000015.9:g.91333942C>T
• NM_000057.2:c.2887C>T
• NM_000057.3:c.2887C>T

This HGVS expression did not pass validation

Protein change:

H588Y

Links:

dbSNP: rs367543023

NCBI 1000 Genomes Browser:

rs367543023

Molecular consequence:

• NM_000057.4:c.2887C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001287246.2:c.2887C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001287247.2:c.2887C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001287248.2:c.1762C>T - missense variant - [Sequence Ontology: SO:0001583]