ClinVar

NM_017983.7(WIPI1):c.923G>A (p.Arg308His)

Genes:

WIPI1:WD repeat domain, phosphoinositide interacting 1 [Gene - OMIM - HGNC]
ARSG:arylsulfatase G [Gene - OMIM - HGNC]
PRKAR1A:protein kinase cAMP-dependent type I regulatory subunit alpha [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

17q24.2

Genomic location:

• Chr17: 68430038 (on Assembly GRCh38)
• Chr17: 66426179 (on Assembly GRCh37)

Preferred name:

NM_017983.7(WIPI1):c.923G>A (p.Arg308His)

HGVS:

• NC_000017.11:g.68430038C>T
• NG_007093.3:g.21416C>T
• NG_032814.2:g.175950C>T
• NM_001278433.2:c.-7+16243C>T
• NM_001320772.2:c.677G>A
• NM_001352905.2:c.*43+9532C>T
• NM_001352909.2:c.1256-10663C>T
• NM_001352910.2:c.1304-10663C>T
• NM_017983.7:c.923G>AMANE SELECT
• NP_001307701.1:p.Arg226His
• NP_060453.3:p.Arg308His
• LRG_514:g.21416C>T
• NC_000017.10:g.66426179C>T
• NM_017983.6:c.923G>A
• NR_135470.2:n.1134G>A
• NR_135471.2:n.927G>A

This HGVS expression did not pass validation

Protein change:

R226H

Links:

dbSNP: rs36084378

NCBI 1000 Genomes Browser:

rs36084378

Molecular consequence:

• NM_001278433.2:c.-7+16243C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001352905.2:c.*43+9532C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001352909.2:c.1256-10663C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001352910.2:c.1304-10663C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001320772.2:c.677G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_017983.7:c.923G>A - missense variant - [Sequence Ontology: SO:0001583]
• NR_135470.2:n.1134G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NR_135471.2:n.927G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]