ClinVar

NM_001680.5(FXYD2):c.198G>A (p.Pro66=)

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: 117820675 (on Assembly GRCh38)
• Chr11: 117691390 (on Assembly GRCh37)

Preferred name:

NM_001680.5(FXYD2):c.198G>A (p.Pro66=)

HGVS:

• NC_000011.10:g.117820675C>T
• NG_011543.1:g.12418G>A
• NG_051656.2:g.1839G>A
• NG_124110.1:g.924C>T
• NM_001204268.3:c.432G>A
• NM_001243598.4:c.*31G>A
• NM_001680.5:c.198G>AMANE SELECT
• NM_021603.4:c.192G>A
• NP_001191197.1:p.Pro144=
• NP_001671.2:p.Pro66=
• NP_067614.1:p.Pro64=
• NC_000011.9:g.117691390C>T
• NC_000011.9:g.117691390C>T
• NM_001680.4:c.198G>A

This HGVS expression did not pass validation

Links:

dbSNP: rs149353193

NCBI 1000 Genomes Browser:

rs149353193

Molecular consequence:

• NM_001243598.4:c.*31G>A - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
• NM_001204268.3:c.432G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001680.5:c.198G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_021603.4:c.192G>A - synonymous variant - [Sequence Ontology: SO:0001819]