chr8:94815917:G> Detail (hg19) (TMEM67)

Information

Genome

Assembly Position
hg19 chr8:94,815,917-94,815,917
hg38 chr8:93,803,689-93,803,689 

HGVS

Type Transcript Protein
RefSeq NM_001142301.1:c.2277+5delG
NM_153704.5:c.2322+5delG
Ensemble ENST00000409623.8:c.2277+5delG
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

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

Prediction

ClinVar

Clinical Significance Likely pathogenic
Review star
Show details
Links
Type Database ID Link
Gene MIM 609884 OMIM
HGNC 28396 HGNC
Ensembl ENSG00000164953 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv33971248 TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Likely pathogenic 2015-02-23 criteria provided, single submitter Joubert syndrome 6 unknown Detail
CIViC
[No Data.]
DisGeNET
[No Data.]
Annotation

Annotations

DescrptionSourceLinks
NM_153704.6(TMEM67):c.2322+5del AND Joubert syndrome 6 ClinVar Detail

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs863225240 dbSNP
Genome
hg19
Position
chr8:94,815,917-94,815,917
Variant Type
snv
Reference Allele
G
Alternative Allele
-
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))
rs863225240
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.0001
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
2
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
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