ClinVar

NM_000057.4(BLM):c.1070C>T (p.Thr357Ile)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

15q26.1

Genomic location:

• Chr15: 90754921 (on Assembly GRCh38)
• Chr15: 91298151 (on Assembly GRCh37)

Preferred name:

NM_000057.4(BLM):c.1070C>T (p.Thr357Ile)

HGVS:

• NC_000015.10:g.90754921C>T
• NG_007272.1:g.42550C>T
• NM_000057.4:c.1070C>TMANE SELECT
• NM_001287246.2:c.1070C>T
• NM_001287247.2:c.1070C>T
• NM_001287248.2:c.-222C>T
• NP_000048.1:p.Thr357Ile
• NP_001274175.1:p.Thr357Ile
• NP_001274176.1:p.Thr357Ile
• LRG_20:g.42550C>T
• NC_000015.9:g.91298151C>T
• NM_000057.3:c.1070C>T

This HGVS expression did not pass validation

Protein change:

T357I

Links:

dbSNP: rs1555419001

NCBI 1000 Genomes Browser:

rs1555419001

Molecular consequence:

• NM_001287248.2:c.-222C>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_000057.4:c.1070C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001287246.2:c.1070C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001287247.2:c.1070C>T - missense variant - [Sequence Ontology: SO:0001583]