ClinVar

NM_001680.5(FXYD2):c.132C>T (p.Ile44=)

Genes:

FXYD2:FXYD domain containing ion transport regulator 2 [Gene - OMIM - HGNC]
FXYD6-FXYD2:FXYD6-FXYD2 readthrough [Gene - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

11q23.3

Genomic location:

• Chr11: 117822413 (on Assembly GRCh38)
• Chr11: 117693128 (on Assembly GRCh37)

Preferred name:

NM_001680.5(FXYD2):c.132C>T (p.Ile44=)

HGVS:

• NC_000011.10:g.117822413G>A
• NG_011543.1:g.10680C>T
• NG_051656.2:g.101C>T
• NG_124111.1:g.246G>A
• NM_001204268.3:c.366C>T
• NM_001243598.4:c.311+266C>T
• NM_001680.5:c.132C>TMANE SELECT
• NM_021603.4:c.126C>T
• NP_001191197.1:p.Ile122=
• NP_001671.2:p.Ile44=
• NP_067614.1:p.Ile42=
• NC_000011.9:g.117693128G>A

This HGVS expression did not pass validation

Links:

dbSNP: rs114348969

NCBI 1000 Genomes Browser:

rs114348969

Molecular consequence:

• NM_001243598.4:c.311+266C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001204268.3:c.366C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001680.5:c.132C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_021603.4:c.126C>T - synonymous variant - [Sequence Ontology: SO:0001819]