ClinVar

NM_001754.5(RUNX1):c.303G>T (p.Val101=)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

21q22.12

Genomic location:

• Chr21: 34886891 (on Assembly GRCh38)
• Chr21: 36259188 (on Assembly GRCh37)

Preferred name:

NM_001754.5(RUNX1):c.303G>T (p.Val101=)

Other names:

NM_001754.5(RUNX1):c.303G>T; p.Val101=

HGVS:

• NC_000021.9:g.34886891C>A
• NG_011402.2:g.1102821G>T
• NM_001001890.3:c.222G>T
• NM_001122607.2:c.222G>T
• NM_001754.5:c.303G>TMANE SELECT
• NP_001001890.1:p.Val74=
• NP_001116079.1:p.Val74=
• NP_001745.2:p.Val101=
• NP_001745.2:p.Val101=
• LRG_482t1:c.303G>T
• LRG_482:g.1102821G>T
• LRG_482p1:p.Val101=
• NC_000021.8:g.36259188C>A
• NM_001754.4:c.303G>T

This HGVS expression did not pass validation

Links:

dbSNP: rs142472642

NCBI 1000 Genomes Browser:

rs142472642

Molecular consequence:

• NM_001001890.3:c.222G>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001122607.2:c.222G>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001754.5:c.303G>T - synonymous variant - [Sequence Ontology: SO:0001819]