chr6:99374801:G>A Detail (hg19) (FBXL4)

Information

Genome

Assembly Position
hg19 chr6:99,374,801-99,374,801
hg38 chr6:98,926,925-98,926,925 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_001278716.1:c.64C>T NP_001265645.1:p.Arg22Ter
NM_012160.4:c.64C>T NP_036292.2:p.Arg22Ter
NR_103836.1:c.64C>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 Pathogenic Likely pathogenic
Review star
Show details
Links
Type Database ID Link
Gene MIM 605654 OMIM
HGNC 13601 HGNC
Ensembl ENSG00000112234 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar
COSMIC COSM3079957 COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Pathogenic Likely pathogenic 2022-03-23 criteria provided, multiple submitters, no conflicts mitochondrial DNA depletion syndrome 13 germline inherited maternal unknown Detail
Pathogenic 2023-12-15 criteria provided, multiple submitters, no conflicts not provided germline Detail
Pathogenic 2018-05-24 criteria provided, single submitter Inborn genetic diseases germline Detail
Pathogenic criteria provided, single submitter biparental Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.360 MITOCHONDRIAL DNA DEPLETION SYNDROME 13 (ENCEPHALOMYOPATHIC TYPE) NA CLINVAR Detail
Annotation

Annotations

DescrptionSourceLinks
NM_001278716.2(FBXL4):c.64C>T (p.Arg22Ter) AND Mitochondrial DNA depletion syndrome 13 ClinVar Detail
NM_001278716.2(FBXL4):c.64C>T (p.Arg22Ter) AND not provided ClinVar Detail
NM_001278716.2(FBXL4):c.64C>T (p.Arg22Ter) AND Inborn genetic diseases ClinVar Detail
NM_001278716.2(FBXL4):c.64C>T (p.Arg22Ter) AND Neurodevelopmental delay ClinVar Detail
NA 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
-
dbSNP
rs200440128 dbSNP
Genome
hg19
Position
chr6:99,374,801-99,374,801
Variant Type
snv
Reference Allele
G
Alternative Allele
A
East Asian Chromosome Counts (ExAC)
8652
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)
121180
Allele Counts in All Race (ExAC)
5
Heterozygous Counts in All Race (ExAC)
5
Homozygous Counts in All Race (ExAC)
0
Allele Frequency in All Race (ExAC)
4.1260934147549104E-5
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