ClinVar

NM_001009944.3(PKD1):c.11187C>A (p.His3729Gln)

Genes:

PKD1-AS1:PKD1 antisense RNA 1 [Gene - HGNC]
PKD1:polycystin 1, transient receptor potential channel interacting [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

16p13.3

Genomic location:

• Chr16: 2092562 (on Assembly GRCh38)
• Chr16: 2142563 (on Assembly GRCh37)

Preferred name:

NM_001009944.3(PKD1):c.11187C>A (p.His3729Gln)

HGVS:

• NC_000016.10:g.2092562G>T
• NG_008617.1:g.50659C>A
• NM_000296.4:c.11184C>A
• NM_001009944.3:c.11187C>AMANE SELECT
• NP_000287.4:p.His3728Gln
• NP_001009944.2:p.His3729Gln
• NP_001009944.3:p.His3729Gln
• NC_000016.9:g.2142563G>T
• NM_001009944.2:c.11187C>A

This HGVS expression did not pass validation

Protein change:

H3728Q

Molecular consequence:

• NM_000296.4:c.11184C>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001009944.3:c.11187C>A - missense variant - [Sequence Ontology: SO:0001583]

Observations:

1