ClinVar

NM_001378183.1(PIEZO2):c.3730G>A (p.Val1244Met)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

18p11.22

Genomic location:

• Chr18: 10759509 (on Assembly GRCh38)
• Chr18: 10759507 (on Assembly GRCh37)

Preferred name:

NM_001378183.1(PIEZO2):c.3730G>A (p.Val1244Met)

HGVS:

• NC_000018.10:g.10759509C>T
• NG_034005.1:g.394254G>A
• NM_001378183.1:c.3730G>AMANE SELECT
• NM_022068.4:c.3655G>A
• NP_001365112.1:p.Val1244Met
• NP_071351.2:p.Val1219Met
• NP_071351.2:p.Val1219Met
• NC_000018.9:g.10759507C>T
• NM_022068.2:c.3655G>A
• NM_022068.3:c.3655G>A

This HGVS expression did not pass validation

Protein change:

V1219M

Links:

dbSNP: rs73946020

NCBI 1000 Genomes Browser:

rs73946020

Molecular consequence:

• NM_001378183.1:c.3730G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_022068.4:c.3655G>A - missense variant - [Sequence Ontology: SO:0001583]