ClinVar

NM_001754.5(RUNX1):c.444C>T (p.Thr148=)

Genes:

RUNX1:RUNX family transcription factor 1 [Gene - OMIM - HGNC]
RUNX1-AS1:RUNX1 antisense RNA 1 [Gene - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

21q22.12

Genomic location:

• Chr21: 34880621 (on Assembly GRCh38)
• Chr21: 36252918 (on Assembly GRCh37)

Preferred name:

NM_001754.5(RUNX1):c.444C>T (p.Thr148=)

Other names:

NM_001754.4(RUNX1):c.444C>T

HGVS:

• NC_000021.9:g.34880621G>A
• NG_011402.2:g.1109091C>T
• NM_001001890.3:c.363C>T
• NM_001122607.2:c.363C>T
• NM_001754.5:c.444C>TMANE SELECT
• NP_001001890.1:p.Thr121=
• NP_001116079.1:p.Thr121=
• NP_001745.2:p.Thr148=
• NP_001745.2:p.Thr148=
• LRG_482t1:c.444C>T
• LRG_482:g.1109091C>T
• LRG_482p1:p.Thr148=
• NC_000021.8:g.36252918G>A
• NM_001754.4:c.444C>T
• p.Thr148=

This HGVS expression did not pass validation

Links:

dbSNP: rs773689002

NCBI 1000 Genomes Browser:

rs773689002

Molecular consequence:

• NM_001001890.3:c.363C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001122607.2:c.363C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001754.5:c.444C>T - synonymous variant - [Sequence Ontology: SO:0001819]