ClinVar

NM_001680.5(FXYD2):c.126C>T (p.Leu42=)

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: 117822419 (on Assembly GRCh38)
• Chr11: 117693134 (on Assembly GRCh37)

Preferred name:

NM_001680.5(FXYD2):c.126C>T (p.Leu42=)

HGVS:

• NC_000011.10:g.117822419G>A
• NG_011543.1:g.10674C>T
• NG_051656.2:g.95C>T
• NG_124111.1:g.252G>A
• NM_001204268.3:c.360C>T
• NM_001243598.4:c.311+260C>T
• NM_001680.5:c.126C>TMANE SELECT
• NM_021603.4:c.120C>T
• NP_001191197.1:p.Leu120=
• NP_001671.2:p.Leu42=
• NP_067614.1:p.Leu40=
• NC_000011.9:g.117693134G>A
• NC_000011.9:g.117693134G>A
• NM_001680.4:c.126C>T

This HGVS expression did not pass validation

Links:

dbSNP: rs144279659

NCBI 1000 Genomes Browser:

rs144279659

Molecular consequence:

• NM_001243598.4:c.311+260C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001204268.3:c.360C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001680.5:c.126C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_021603.4:c.120C>T - synonymous variant - [Sequence Ontology: SO:0001819]