chr1:226402338:G>C Detail (hg38) (PARP1)

Information

Genome

Assembly Position
hg19 chr1:226,590,039-226,590,039 View the variant detail on this assembly version.
hg38 chr1:226,402,338-226,402,338

HGVS

Type Transcript Protein
RefSeq NM_001618.3:c.162C>G NP_001609.2:p.Phe54Leu
Ensemble ENST00000366794.10:c.162C>G ENST00000366794.10:p.Phe54Leu
ENST00000677203.1:c.162C>G ENST00000677203.1:p.Phe54Leu
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

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

Prediction

ClinVar

Clinical Significance
Review star [No Data.]
Show details
Links
Type Database ID Link
Gene MIM 173870 OMIM
HGNC 270 HGNC
Ensembl ENSG00000143799 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv5018999 TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
[No Data.]
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
<0.001 Diabetic Polyneuropathies Leu54Phe and Val762Ala polymorphisms in the poly(ADP-ribose)polymerase-1 gene ar... BeFree 18054108 Detail
Annotation

Annotations

DescrptionSourceLinks
Leu54Phe and Val762Ala polymorphisms in the poly(ADP-ribose)polymerase-1 gene are associated with di... DisGeNET 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
-
Genome
hg38
Position
chr1:226,402,338-226,402,338
Variant Type
snv
Reference Allele
G
Alternative Allele
C
Filtering Status (HGVD)
PASS
Filtering Status (HGVD)
LowQual
# of samples (HGVD)
1205
Mean of sample read depth (HGVD)
58.03
Standard deviation of sample read depth (HGVD)
32.84
Number of reference allele (HGVD)
2409
Number of alternative allele (HGVD)
1
Allele Frequency (HGVD)
4.149377593360996E-4
Gene Symbol (HGVD)
PARP1
ToMMo VCF FILTER column value (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
PASS
Total VCF ID column value (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
rs3738708
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.0003
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
5
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
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