ClinVar

NM_001146079.2(CLDN14):c.254T>A (p.Val85Asp)

Genes:

CLDN14-AS1:CLDN14 antisense RNA 1 [Gene - HGNC]
CLDN14:claudin 14 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

21q22.13

Genomic location:

• Chr21: 36461442 (on Assembly GRCh38)
• Chr21: 37833740 (on Assembly GRCh37)

Preferred name:

NM_001146079.2(CLDN14):c.254T>A (p.Val85Asp)

HGVS:

• NC_000021.9:g.36461442A>T
• NG_011777.1:g.120128T>A
• NM_001146077.2:c.254T>A
• NM_001146078.3:c.254T>A
• NM_001146079.2:c.254T>AMANE SELECT
• NM_012130.4:c.254T>A
• NM_144492.3:c.254T>A
• NP_001139549.1:p.Val85Asp
• NP_001139550.1:p.Val85Asp
• NP_001139551.1:p.Val85Asp
• NP_036262.1:p.Val85Asp
• NP_652763.1:p.Val85Asp
• NC_000021.8:g.37833740A>T
• NM_001146079.2:c.254T>A
• NM_012130.3:c.254T>A
• O95500:p.Val85Asp

This HGVS expression did not pass validation

Protein change:

V85D; VAL85ASP

Links:

UniProtKB: O95500#VAR_010738; OMIM: 605608.0002; dbSNP: rs74315437

NCBI 1000 Genomes Browser:

rs74315437

Molecular consequence:

• NM_001146077.2:c.254T>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001146078.3:c.254T>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001146079.2:c.254T>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_012130.4:c.254T>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_144492.3:c.254T>A - missense variant - [Sequence Ontology: SO:0001583]