ClinVar

NM_004562.3(PRKN):c.171+25T>C

Gene:

PRKN:parkin RBR E3 ubiquitin protein ligase [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

6q26

Genomic location:

• Chr6: 162443285 (on Assembly GRCh38)
• Chr6: 162864317 (on Assembly GRCh37)

Preferred name:

NM_004562.3(PRKN):c.171+25T>C

HGVS:

• NC_000006.12:g.162443285A>G
• NG_008289.2:g.289518T>C
• NM_004562.3:c.171+25T>CMANE SELECT
• NM_013987.3:c.171+25T>C
• NM_013988.3:c.171+25T>C
• NC_000006.11:g.162864317A>G

This HGVS expression did not pass validation

Links:

dbSNP: rs2075923

NCBI 1000 Genomes Browser:

rs2075923

Molecular consequence:

• NM_004562.3:c.171+25T>C - intron variant - [Sequence Ontology: SO:0001627]
• NM_013987.3:c.171+25T>C - intron variant - [Sequence Ontology: SO:0001627]
• NM_013988.3:c.171+25T>C - intron variant - [Sequence Ontology: SO:0001627]