ClinVar

NM_000054.7(AVPR2):c.891C>T (p.Asp297=)

Gene:

AVPR2:arginine vasopressin receptor 2 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

Xq28

Genomic location:

• ChrX: 153906397 (on Assembly GRCh38)
• ChrX: 153171851 (on Assembly GRCh37)

Preferred name:

NM_000054.7(AVPR2):c.891C>T (p.Asp297=)

HGVS:

• NC_000023.11:g.153906397C>T
• NG_008687.1:g.6424C>T
• NG_013220.1:g.24864G>A
• NG_013220.2:g.24867G>A
• NM_000054.7:c.891C>TMANE SELECT
• NM_001146151.3:c.891C>T
• NP_000045.1:p.Asp297=
• NP_001139623.1:p.Asp297=
• LRG_716t1:c.891C>T
• LRG_716:g.6424C>T
• LRG_716p1:p.Asp297=
• NC_000023.10:g.153171851C>T
• NR_027419.2:n.844C>T

This HGVS expression did not pass validation

Molecular consequence:

• NR_027419.2:n.844C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NM_000054.7:c.891C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001146151.3:c.891C>T - synonymous variant - [Sequence Ontology: SO:0001819]