ClinVar

NM_001754.5(RUNX1):c.164C>A (p.Ala55Glu)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

21q22.12

Genomic location:

• Chr21: 34887030 (on Assembly GRCh38)
• Chr21: 36259327 (on Assembly GRCh37)

Preferred name:

NM_001754.5(RUNX1):c.164C>A (p.Ala55Glu)

HGVS:

• NC_000021.9:g.34887030G>T
• NG_011402.2:g.1102682C>A
• NM_001001890.3:c.83C>A
• NM_001122607.2:c.83C>A
• NM_001754.5:c.164C>AMANE SELECT
• NP_001001890.1:p.Ala28Glu
• NP_001116079.1:p.Ala28Glu
• NP_001745.2:p.Ala55Glu
• LRG_482t1:c.164C>A
• LRG_482:g.1102682C>A
• NC_000021.8:g.36259327G>T
• NM_001001890.2:c.83C>A
• NM_001754.4:c.164C>A

This HGVS expression did not pass validation

Protein change:

A28E

Links:

dbSNP: rs1473182680

NCBI 1000 Genomes Browser:

rs1473182680

Molecular consequence:

• NM_001001890.3:c.83C>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001122607.2:c.83C>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001754.5:c.164C>A - missense variant - [Sequence Ontology: SO:0001583]