ClinVar

NM_004387.4(NKX2-5):c.73C>T (p.Arg25Cys)

Gene:

NKX2-5:NK2 homeobox 5 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

5q35.1

Genomic location:

• Chr5: 173235011 (on Assembly GRCh38)
• Chr5: 172662014 (on Assembly GRCh37)

Preferred name:

NM_004387.4(NKX2-5):c.73C>T (p.Arg25Cys)

Other names:

p.R25C:CGC>TGC

HGVS:

• NC_000005.10:g.173235011G>A
• NG_013340.1:g.5302C>T
• NM_001166175.2:c.73C>T
• NM_001166176.2:c.73C>T
• NM_004387.4:c.73C>TMANE SELECT
• NP_001159647.1:p.Arg25Cys
• NP_001159648.1:p.Arg25Cys
• NP_004378.1:p.Arg25Cys
• LRG_671t1:c.73C>T
• LRG_671:g.5302C>T
• LRG_671p1:p.Arg25Cys
• NC_000005.9:g.172662014G>A
• NM_004387.3:c.73C>T
• P52952:p.Arg25Cys
• c.73C>T

This HGVS expression did not pass validation

Protein change:

R25C; ARG25CYS

Links:

UniProtKB: P52952#VAR_010116; OMIM: 600584.0004; dbSNP: rs28936670

NCBI 1000 Genomes Browser:

rs28936670

Molecular consequence:

• NM_001166175.2:c.73C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001166176.2:c.73C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_004387.4:c.73C>T - missense variant - [Sequence Ontology: SO:0001583]