ClinVar

NM_001754.5(RUNX1):c.259G>T (p.Gly87Cys)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

21q22.12

Genomic location:

• Chr21: 34886935 (on Assembly GRCh38)
• Chr21: 36259232 (on Assembly GRCh37)

Preferred name:

NM_001754.5(RUNX1):c.259G>T (p.Gly87Cys)

Other names:

NM_001754.4(RUNX1):c.259G>T

HGVS:

• NC_000021.9:g.34886935C>A
• NG_011402.2:g.1102777G>T
• NM_001001890.3:c.178G>T
• NM_001122607.2:c.178G>T
• NM_001754.5:c.259G>TMANE SELECT
• NP_001001890.1:p.Gly60Cys
• NP_001116079.1:p.Gly60Cys
• NP_001745.2:p.Gly87Cys
• NP_001745.2:p.Gly87Cys
• LRG_482t1:c.259G>T
• LRG_482:g.1102777G>T
• LRG_482p1:p.Gly87Cys
• NC_000021.8:g.36259232C>A
• NM_001754.4:c.259G>T
• p.Gly87Cys

This HGVS expression did not pass validation

Protein change:

G60C

Links:

dbSNP: rs561166961

NCBI 1000 Genomes Browser:

rs561166961

Molecular consequence:

• NM_001001890.3:c.178G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001122607.2:c.178G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001754.5:c.259G>T - missense variant - [Sequence Ontology: SO:0001583]