ClinVar

NM_021101.5(CLDN1):c.563G>A (p.Arg188Gln)

Genes:

CLDN16:claudin 16 [Gene - OMIM - HGNC]
CLDN1:claudin 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

3q28

Genomic location:

• Chr3: 190308350 (on Assembly GRCh38)
• Chr3: 190026139 (on Assembly GRCh37)

Preferred name:

NM_021101.5(CLDN1):c.563G>A (p.Arg188Gln)

HGVS:

• NC_000003.12:g.190308350C>T
• NG_021418.1:g.19097G>A
• NM_021101.4:c.563G>A
• NM_021101.5:c.563G>AMANE SELECT
• NP_066924.1:p.Arg188Gln
• NC_000003.11:g.190026139C>T

This HGVS expression did not pass validation

Protein change:

R188Q

Links:

dbSNP: rs145299880

NCBI 1000 Genomes Browser:

rs145299880

Molecular consequence:

• NM_021101.5:c.563G>A - missense variant - [Sequence Ontology: SO:0001583]

Observations:

1