ClinVar

NM_001754.5(RUNX1):c.1265A>C (p.Glu422Ala)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

21q22.12

Genomic location:

• Chr21: 34792313 (on Assembly GRCh38)
• Chr21: 36164610 (on Assembly GRCh37)

Preferred name:

NM_001754.5(RUNX1):c.1265A>C (p.Glu422Ala)

HGVS:

• NC_000021.9:g.34792313T>G
• NG_011402.2:g.1197399A>C
• NM_001001890.3:c.1184A>C
• NM_001754.5:c.1265A>CMANE SELECT
• NP_001001890.1:p.Glu395Ala
• NP_001745.2:p.Glu422Ala
• LRG_482t1:c.1265A>C
• LRG_482:g.1197399A>C
• NC_000021.8:g.36164610T>G
• NM_001754.4:c.1265A>C

This HGVS expression did not pass validation

Protein change:

E395A

Links:

dbSNP: rs2056451758

NCBI 1000 Genomes Browser:

rs2056451758

Molecular consequence:

• NM_001001890.3:c.1184A>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001754.5:c.1265A>C - missense variant - [Sequence Ontology: SO:0001583]