ClinVar

NM_006702.5(PNPLA6):c.27+86T>A

Genes:

LOC130063377:ATAC-STARR-seq lymphoblastoid active region 13887 [Gene]
PNPLA6:patatin like phospholipase domain containing 6 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

19p13.2

Genomic location:

• Chr19: 7535663 (on Assembly GRCh38)
• Chr19: 7600549 (on Assembly GRCh37)

Preferred name:

NM_006702.5(PNPLA6):c.27+86T>A

HGVS:

• NC_000019.10:g.7535663T>A
• NG_013374.1:g.6512T>A
• NG_015806.1:g.18054T>A
• NG_197794.1:g.212T>A
• NM_001166111.2:c.27+86T>A
• NM_001166112.2:c.27+86T>A
• NM_001166113.1:c.27+86T>A
• NM_006702.5:c.27+86T>A
• NC_000019.9:g.7600549T>A

This HGVS expression did not pass validation

Links:

dbSNP: rs7248476

NCBI 1000 Genomes Browser:

rs7248476

Molecular consequence:

• NM_001166111.2:c.27+86T>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_001166112.2:c.27+86T>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_001166113.1:c.27+86T>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_006702.5:c.27+86T>A - intron variant - [Sequence Ontology: SO:0001627]