ClinVar

NM_001378183.1(PIEZO2):c.8396G>A (p.Arg2799His)

Gene:

PIEZO2:piezo type mechanosensitive ion channel component 2 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

18p11.22

Genomic location:

• Chr18: 10671729 (on Assembly GRCh38)
• Chr18: 10671726 (on Assembly GRCh37)

Preferred name:

NM_001378183.1(PIEZO2):c.8396G>A (p.Arg2799His)

Other names:

NM_001378183.1(PIEZO2):c.8396G>A; p.Arg2799His

HGVS:

• NC_000018.10:g.10671729C>T
• NG_034005.1:g.482034G>A
• NM_001378183.1:c.8396G>AMANE SELECT
• NM_022068.4:c.8057G>A
• NP_001365112.1:p.Arg2799His
• NP_071351.2:p.Arg2686His
• NC_000018.9:g.10671726C>T
• NM_022068.2:c.8057G>A
• NM_022068.3:c.8057G>A
• Q9H5I5:p.Arg2686His

This HGVS expression did not pass validation

Protein change:

R2686H; ARG2686HIS

Links:

UniProtKB: Q9H5I5#VAR_071303; OMIM: 613629.0003; dbSNP: rs587777450

NCBI 1000 Genomes Browser:

rs587777450

Molecular consequence:

• NM_001378183.1:c.8396G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_022068.4:c.8057G>A - missense variant - [Sequence Ontology: SO:0001583]

Observations:

1