ClinVar

NM_000486.6(AQP2):c.763C>T (p.Gln255Ter)

Genes:

AQP5-AS1:AQP5 and AQP2 antisense RNA 2 [Gene - HGNC]
AQP2:aquaporin 2 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

12q13.12

Genomic location:

• Chr12: 49955555 (on Assembly GRCh38)
• Chr12: 50349338 (on Assembly GRCh37)

Preferred name:

NM_000486.6(AQP2):c.763C>T (p.Gln255Ter)

HGVS:

• NC_000012.12:g.49955555C>T
• NG_008913.1:g.9815C>T
• NM_000486.6:c.763C>TMANE SELECT
• NP_000477.1:p.Gln255Ter
• NP_000477.1:p.Gln255Ter
• LRG_717t1:c.763C>T
• LRG_717:g.9815C>T
• LRG_717p1:p.Gln255Ter
• NC_000012.11:g.50349338C>T
• NM_000486.5:c.763C>T

This HGVS expression did not pass validation

Protein change:

Q255*

Links:

dbSNP: rs370879515

NCBI 1000 Genomes Browser:

rs370879515

Molecular consequence:

• NM_000486.6:c.763C>T - nonsense - [Sequence Ontology: SO:0001587]