ClinVar

NM_000054.7(AVPR2):c.19A>T (p.Thr7Ser)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

Xq28

Genomic location:

• ChrX: 153905164 (on Assembly GRCh38)
• ChrX: 153170618 (on Assembly GRCh37)

Preferred name:

NM_000054.7(AVPR2):c.19A>T (p.Thr7Ser)

HGVS:

• NC_000023.11:g.153905164A>T
• NG_008687.1:g.5191A>T
• NM_000054.7:c.19A>TMANE SELECT
• NM_001146151.3:c.19A>T
• NP_000045.1:p.Thr7Ser
• NP_001139623.1:p.Thr7Ser
• LRG_716t1:c.19A>T
• LRG_716:g.5191A>T
• LRG_716p1:p.Thr7Ser
• NC_000023.10:g.153170618A>T
• NM_000054.4:c.19A>T
• NR_027419.2:n.459A>T
• P30518:p.Thr7Ser

This HGVS expression did not pass validation

Protein change:

T7S

Links:

UniProtKB: P30518#VAR_003516; dbSNP: rs5196

NCBI 1000 Genomes Browser:

rs5196

Molecular consequence:

• NM_000054.7:c.19A>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001146151.3:c.19A>T - missense variant - [Sequence Ontology: SO:0001583]
• NR_027419.2:n.459A>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]