ClinVar

NM_000057.4(BLM):c.3021G>A (p.Met1007Ile)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

15q26.1

Genomic location:

• Chr15: 90794168 (on Assembly GRCh38)
• Chr15: 91337398 (on Assembly GRCh37)

Preferred name:

NM_000057.4(BLM):c.3021G>A (p.Met1007Ile)

HGVS:

• NC_000015.10:g.90794168G>A
• NG_007272.1:g.81797G>A
• NM_000057.4:c.3021G>AMANE SELECT
• NM_001287246.2:c.3021G>A
• NM_001287247.2:c.3021G>A
• NM_001287248.2:c.1896G>A
• NP_000048.1:p.Met1007Ile
• NP_001274175.1:p.Met1007Ile
• NP_001274176.1:p.Met1007Ile
• NP_001274177.1:p.Met632Ile
• LRG_20t1:c.3021G>A
• LRG_20:g.81797G>A
• NC_000015.9:g.91337398G>A
• NM_000057.2:c.3021G>A
• NM_000057.3:c.3021G>A

This HGVS expression did not pass validation

Protein change:

M1007I

Links:

dbSNP: rs1244649224

NCBI 1000 Genomes Browser:

rs1244649224

Molecular consequence:

• NM_000057.4:c.3021G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001287246.2:c.3021G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001287247.2:c.3021G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001287248.2:c.1896G>A - missense variant - [Sequence Ontology: SO:0001583]