ClinVar

NM_021101.5(CLDN1):c.473+6G>A

Genes:

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

Variant type:

single nucleotide variant

Cytogenetic location:

3q28

Genomic location:

• Chr3: 190310163 (on Assembly GRCh38)
• Chr3: 190027952 (on Assembly GRCh37)

Preferred name:

NM_021101.5(CLDN1):c.473+6G>A

HGVS:

• NC_000003.12:g.190310163C>T
• NG_021418.1:g.17284G>A
• NM_021101.5:c.473+6G>AMANE SELECT
• NC_000003.11:g.190027952C>T

This HGVS expression did not pass validation

Links:

dbSNP: rs142778400

NCBI 1000 Genomes Browser:

rs142778400

Molecular consequence:

• NM_021101.5:c.473+6G>A - intron variant - [Sequence Ontology: SO:0001627]

Observations:

5