ClinVar

NM_001754.5(RUNX1):c.895G>A (p.Ala299Thr)

Gene:

RUNX1:RUNX family transcription factor 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

21q22.12

Genomic location:

• Chr21: 34799373 (on Assembly GRCh38)
• Chr21: 36171670 (on Assembly GRCh37)

Preferred name:

NM_001754.5(RUNX1):c.895G>A (p.Ala299Thr)

Other names:

NM_001754.5(RUNX1):c.895G>A; p.Ala299Thr

HGVS:

• NC_000021.9:g.34799373C>T
• NG_011402.2:g.1190339G>A
• NM_001001890.3:c.814G>A
• NM_001754.5:c.895G>AMANE SELECT
• NP_001001890.1:p.Ala272Thr
• NP_001745.2:p.Ala299Thr
• NP_001745.2:p.Ala299Thr
• LRG_482t1:c.895G>A
• LRG_482:g.1190339G>A
• LRG_482p1:p.Ala299Thr
• NC_000021.8:g.36171670C>T
• NM_001754.4:c.895G>A

This HGVS expression did not pass validation

Protein change:

A272T

Molecular consequence:

• NM_001001890.3:c.814G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001754.5:c.895G>A - missense variant - [Sequence Ontology: SO:0001583]