ClinVar

NM_001166114.2(PNPLA6):c.3699+41C>T

Gene:

PNPLA6:patatin like phospholipase domain containing 6 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

19p13.2

Genomic location:

• Chr19: 7559192 (on Assembly GRCh38)
• Chr19: 7624078 (on Assembly GRCh37)

Preferred name:

NM_001166114.2(PNPLA6):c.3699+41C>T

HGVS:

• NC_000019.10:g.7559192C>T
• NG_013374.1:g.30041C>T
• NM_001166111.2:c.3729+41C>T
• NM_001166112.2:c.3504+41C>T
• NM_001166113.1:c.3585+41C>T
• NM_001166114.2:c.3699+41C>TMANE SELECT
• NM_006702.5:c.3585+41C>T
• NC_000019.9:g.7624078C>T

This HGVS expression did not pass validation

Links:

dbSNP: rs538850

NCBI 1000 Genomes Browser:

rs538850

Molecular consequence:

• NM_001166111.2:c.3729+41C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001166112.2:c.3504+41C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001166113.1:c.3585+41C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001166114.2:c.3699+41C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_006702.5:c.3585+41C>T - intron variant - [Sequence Ontology: SO:0001627]