ClinVar

NM_000057.4(BLM):c.3062A>T (p.Asn1021Ile)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

15q26.1

Genomic location:

• Chr15: 90794209 (on Assembly GRCh38)
• Chr15: 91337439 (on Assembly GRCh37)

Preferred name:

NM_000057.4(BLM):c.3062A>T (p.Asn1021Ile)

HGVS:

• NC_000015.10:g.90794209A>T
• NG_007272.1:g.81838A>T
• NM_000057.4:c.3062A>TMANE SELECT
• NM_001287246.2:c.3062A>T
• NM_001287247.2:c.3062A>T
• NM_001287248.2:c.1937A>T
• NP_000048.1:p.Asn1021Ile
• NP_001274175.1:p.Asn1021Ile
• NP_001274176.1:p.Asn1021Ile
• NP_001274177.1:p.Asn646Ile
• LRG_20:g.81838A>T
• NC_000015.9:g.91337439A>T
• NM_000057.2:c.3062A>T
• NM_000057.3:c.3062A>T

This HGVS expression did not pass validation

Protein change:

N1021I

Links:

dbSNP: rs369629509

NCBI 1000 Genomes Browser:

rs369629509

Molecular consequence:

• NM_000057.4:c.3062A>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001287246.2:c.3062A>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001287247.2:c.3062A>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001287248.2:c.1937A>T - missense variant - [Sequence Ontology: SO:0001583]