ClinVar

NM_000297.4(PKD2):c.59C>T (p.Ala20Val)

Genes:

LOC129992813:ATAC-STARR-seq lymphoblastoid silent region 15559 [Gene]
PKD2:polycystin 2, transient receptor potential cation channel [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

4q22.1

Genomic location:

• Chr4: 88007792 (on Assembly GRCh38)
• Chr4: 88928944 (on Assembly GRCh37)

Preferred name:

NM_000297.4(PKD2):c.59C>T (p.Ala20Val)

HGVS:

• NC_000004.12:g.88007792C>T
• NG_008604.1:g.5125C>T
• NM_000297.4:c.59C>TMANE SELECT
• NP_000288.1:p.Ala20Val
• NC_000004.11:g.88928944C>T
• NM_000297.2:c.59C>T
• NR_156488.2:n.158C>T

This HGVS expression did not pass validation

Protein change:

A20V

Links:

dbSNP: rs1213258236

NCBI 1000 Genomes Browser:

rs1213258236

Molecular consequence:

• NM_000297.4:c.59C>T - missense variant - [Sequence Ontology: SO:0001583]
• NR_156488.2:n.158C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]