chr10:72358773:G>A Detail (hg19) (PRF1, PALD1)

Information

Genome

Assembly Position
hg19 chr10:72,358,773-72,358,773
hg38 chr10:70,599,017-70,599,017 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq
Ensemble ENST00000697572.1:c.2250+34498G>A
ENST00000697571.1:c.2548G>A ENST00000697571.1:p.Ala850Thr
Type Transcript Protein
RefSeq NM_001083116.1:c.704C>T NP_001076585.1:p.Ala235Val
NM_005041.4:c.704C>T NP_005032.2:p.Ala235Val
Ensemble ENST00000638674.1:c.540-1176C>T
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 Uncertain significance
Review star
Show details
Links
Type Database ID Link
Gene MIM 614656 OMIM
HGNC 23530 HGNC
Ensembl ENSG00000107719 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar
COSMIC
MONDO
Type Database ID Link
Gene MIM 170280 OMIM
HGNC 9360 HGNC
Ensembl ENSG00000180644 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 2022-10-18 criteria provided, single submitter familial hemophagocytic lymphohistiocytosis 2 germline Detail
Uncertain significance 2022-10-26 criteria provided, single submitter Inborn genetic diseases germline Detail
Uncertain significance 2023-05-12 criteria provided, single submitter PRF1-related disorder germline Detail
CIViC
[No Data.]
DisGeNET
[No Data.]
Annotation

Annotations

DescrptionSourceLinks
NM_001083116.3(PRF1):c.704C>T (p.Ala235Val) AND Familial hemophagocytic lymphohistiocytosis 2 ClinVar Detail
NM_001083116.3(PRF1):c.704C>T (p.Ala235Val) AND Inborn genetic diseases ClinVar Detail
NM_001083116.3(PRF1):c.704C>T (p.Ala235Val) AND PRF1-related disorder 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
rs142403457 dbSNP
Genome
hg19
Position
chr10:72,358,773-72,358,773
Variant Type
snv
Reference Allele
G
Alternative Allele
A
East Asian Chromosome Counts (ExAC)
8642
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)
121140
Allele Counts in All Race (ExAC)
10
Heterozygous Counts in All Race (ExAC)
10
Homozygous Counts in All Race (ExAC)
0
Allele Frequency in All Race (ExAC)
8.254911672445105E-5
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