ClinVar

NM_022164.3(TINAGL1):c.356G>T (p.Trp119Leu)

Gene:

TINAGL1:tubulointerstitial nephritis antigen like 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

1p35.2

Genomic location:

• Chr1: 31579249 (on Assembly GRCh38)
• Chr1: 32044850 (on Assembly GRCh37)

Preferred name:

NM_022164.3(TINAGL1):c.356G>T (p.Trp119Leu)

HGVS:

• NC_000001.11:g.31579249G>T
• NG_028164.1:g.7765G>T
• NM_001204414.2:c.356G>T
• NM_001204415.2:c.41G>T
• NM_022164.3:c.356G>TMANE SELECT
• NP_001191343.1:p.Trp119Leu
• NP_001191344.1:p.Trp14Leu
• NP_071447.1:p.Trp119Leu
• NC_000001.10:g.32044850G>T
• NM_022164.2:c.356G>T

This HGVS expression did not pass validation

Protein change:

W119L

Molecular consequence:

• NM_001204414.2:c.356G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001204415.2:c.41G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_022164.3:c.356G>T - missense variant - [Sequence Ontology: SO:0001583]