ClinVar

NM_001166114.2(PNPLA6):c.3745C>T (p.Arg1249Cys)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

19p13.2

Genomic location:

• Chr19: 7560693 (on Assembly GRCh38)
• Chr19: 7625579 (on Assembly GRCh37)

Preferred name:

NM_001166114.2(PNPLA6):c.3745C>T (p.Arg1249Cys)

HGVS:

• NC_000019.10:g.7560693C>T
• NG_013374.1:g.31542C>T
• NM_001166111.2:c.3775C>T
• NM_001166112.2:c.3550C>T
• NM_001166113.1:c.3631C>T
• NM_001166114.2:c.3745C>TMANE SELECT
• NM_006702.5:c.3631C>T
• NP_001159583.1:p.Arg1259Cys
• NP_001159584.1:p.Arg1184Cys
• NP_001159585.1:p.Arg1211Cys
• NP_001159586.1:p.Arg1249Cys
• NP_006693.3:p.Arg1211Cys
• NC_000019.9:g.7625579C>T

This HGVS expression did not pass validation

Protein change:

R1184C

Links:

dbSNP: rs562876825

NCBI 1000 Genomes Browser:

rs562876825

Molecular consequence:

• NM_001166111.2:c.3775C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001166112.2:c.3550C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001166113.1:c.3631C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001166114.2:c.3745C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_006702.5:c.3631C>T - missense variant - [Sequence Ontology: SO:0001583]