ClinVar

NM_001754.5(RUNX1):c.967A>G (p.Thr323Ala)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

21q22.12

Genomic location:

• Chr21: 34799301 (on Assembly GRCh38)
• Chr21: 36171598 (on Assembly GRCh37)

Preferred name:

NM_001754.5(RUNX1):c.967A>G (p.Thr323Ala)

HGVS:

• NC_000021.9:g.34799301T>C
• NG_011402.2:g.1190411A>G
• NM_001001890.3:c.886A>G
• NM_001754.5:c.967A>GMANE SELECT
• NP_001001890.1:p.Thr296Ala
• NP_001745.2:p.Thr323Ala
• LRG_482t1:c.967A>G
• LRG_482:g.1190411A>G
• NC_000021.8:g.36171598T>C
• NM_001754.4:c.967A>G

This HGVS expression did not pass validation

Protein change:

T296A

Links:

dbSNP: rs776703625

NCBI 1000 Genomes Browser:

rs776703625

Molecular consequence:

• NM_001001890.3:c.886A>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_001754.5:c.967A>G - missense variant - [Sequence Ontology: SO:0001583]