chr22:38565333:G>A Detail (hg19) (PLA2G6)

Information

Genome

Assembly Position
hg19 chr22:38,565,333-38,565,333
hg38 chr22:38,169,326-38,169,326 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_003560.2:c.101C>T NP_003551.2:p.Ser34Leu
NM_001004426.1:c.101C>T NP_001004426.1:p.Ser34Leu
NM_001199562.1:c.101C>T NP_001186491.1:p.Ser34Leu
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:[No Data.]
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:<0.001

Prediction

ClinVar

Clinical Significance Conflicting classifications of pathogenicity
Review star
Show details
Links
Type Database ID Link
Gene MIM 603604 OMIM
HGNC 9039 HGNC
Ensembl ENSG00000184381 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Uncertain significance 2018-01-12 criteria provided, single submitter PLA2G6-associated neurodegeneration germline Detail
Conflicting interpretations of pathogenicity 2023-11-01 criteria provided, conflicting interpretations not provided germline Detail
Uncertain significance 2017-01-24 criteria provided, single submitter not specified germline Detail
Uncertain significance 2018-10-31 criteria provided, single submitter Autosomal recessive Parkinson disease 14,neurodegeneration with brain iron accumulation 2b,Infantile neuroaxonal dystrophy unknown Detail
Uncertain significance 2018-10-31 criteria provided, single submitter Autosomal recessive Parkinson disease 14,neurodegeneration with brain iron accumulation 2b,Infantile neuroaxonal dystrophy unknown Detail
Uncertain significance 2018-10-31 criteria provided, single submitter Autosomal recessive Parkinson disease 14,neurodegeneration with brain iron accumulation 2b,Infantile neuroaxonal dystrophy unknown Detail
Likely benign 2024-01-25 criteria provided, single submitter Infantile neuroaxonal dystrophy germline Detail
CIViC
[No Data.]
DisGeNET
[No Data.]
Annotation

Annotations

DescrptionSourceLinks
NM_003560.4(PLA2G6):c.101C>T (p.Ser34Leu) AND PLA2G6-associated neurodegeneration ClinVar Detail
NM_003560.4(PLA2G6):c.101C>T (p.Ser34Leu) AND not provided ClinVar Detail
NM_003560.4(PLA2G6):c.101C>T (p.Ser34Leu) AND not specified ClinVar Detail
NM_003560.4(PLA2G6):c.101C>T (p.Ser34Leu) AND multiple conditions ClinVar Detail
NM_003560.4(PLA2G6):c.101C>T (p.Ser34Leu) AND multiple conditions ClinVar Detail
NM_003560.4(PLA2G6):c.101C>T (p.Ser34Leu) AND multiple conditions ClinVar Detail
NM_003560.4(PLA2G6):c.101C>T (p.Ser34Leu) AND Infantile neuroaxonal dystrophy ClinVar Detail

Overlapped Transcript Coordinates

Gene Transcript ID Exon Number Chromosome Start Stop Type Amino Mutation Transcript Position Links

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs147948449 dbSNP
Genome
hg19
Position
chr22:38,565,333-38,565,333
Variant Type
snv
Reference Allele
G
Alternative Allele
A
East Asian Chromosome Counts (ExAC)
8638
East Asian Allele Counts (ExAC)
0
East Asian Heterozygous Counts (ExAC)
0
East Asian Homozygous Counts (ExAC)
0
East Asian Allele Frequency (ExAC)
0.0
Chromosome Counts in All Race (ExAC)
120710
Allele Counts in All Race (ExAC)
40
Heterozygous Counts in All Race (ExAC)
40
Homozygous Counts in All Race (ExAC)
0
Allele Frequency in All Race (ExAC)
3.313727114572115E-4
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