ClinVar

NM_001754.5(RUNX1):c.342C>A (p.Ile114=)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

21q22.12

Genomic location:

• Chr21: 34886852 (on Assembly GRCh38)
• Chr21: 36259149 (on Assembly GRCh37)

Preferred name:

NM_001754.5(RUNX1):c.342C>A (p.Ile114=)

Other names:

NM_001754.5(RUNX1):c.342C>A; p.Ile114=

HGVS:

• NC_000021.9:g.34886852G>T
• NG_011402.2:g.1102860C>A
• NM_001001890.3:c.261C>A
• NM_001122607.2:c.261C>A
• NM_001754.5:c.342C>AMANE SELECT
• NP_001001890.1:p.Ile87=
• NP_001116079.1:p.Ile87=
• NP_001745.2:p.Ile114=
• NP_001745.2:p.Ile114=
• LRG_482t1:c.342C>A
• LRG_482:g.1102860C>A
• LRG_482p1:p.Ile114=
• NC_000021.8:g.36259149G>T
• NM_001754.4:c.342C>A

This HGVS expression did not pass validation

Links:

dbSNP: rs201747706

NCBI 1000 Genomes Browser:

rs201747706

Molecular consequence:

• NM_001001890.3:c.261C>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001122607.2:c.261C>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001754.5:c.342C>A - synonymous variant - [Sequence Ontology: SO:0001819]