ClinVar

NM_021101.5(CLDN1):c.41C>A (p.Ala14Asp)

Genes:

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

Variant type:

single nucleotide variant

Cytogenetic location:

3q28

Genomic location:

• Chr3: 190322166 (on Assembly GRCh38)
• Chr3: 190039955 (on Assembly GRCh37)

Preferred name:

NM_021101.5(CLDN1):c.41C>A (p.Ala14Asp)

HGVS:

• NC_000003.12:g.190322166G>T
• NG_008149.2:g.36806G>T
• NG_021418.1:g.5281C>A
• NM_001378492.1:c.-279+7107G>T
• NM_001378493.1:c.-279+31575G>T
• NM_021101.5:c.41C>AMANE SELECT
• NP_066924.1:p.Ala14Asp
• NC_000003.11:g.190039955G>T
• NM_021101.4:c.41C>A

This HGVS expression did not pass validation

Protein change:

A14D

Molecular consequence:

• NM_001378492.1:c.-279+7107G>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001378493.1:c.-279+31575G>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_021101.5:c.41C>A - missense variant - [Sequence Ontology: SO:0001583]