chr6:24828262:C>T Detail (hg38) (RIPOR2)

Information

Genome

Assembly Position
hg19 chr6:24,828,490-24,828,490 View the variant detail on this assembly version.
hg38 chr6:24,828,262-24,828,262

HGVS

Type Transcript Protein
RefSeq NM_014722.3:c.2603G>A NP_055537.2:p.Arg868Gln
NM_001286445.1:c.2453G>A NP_001273374.1:p.Arg818Gln
Ensemble ENST00000259698.9:c.2603G>A ENST00000259698.9:p.Arg868Gln
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:0.228
ToMMo:0.215
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:0.191

Prediction

ClinVar

Clinical Significance Benign
Review star
Show details
Links
Type Database ID Link
Gene MIM 611410 OMIM
HGNC 13872 HGNC
Ensembl ENSG00000111913 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv24582004 TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Benign 2017-08-23 criteria provided, multiple submitters, no conflicts not specified germline Detail
Benign 2021-08-10 criteria provided, single submitter Autosomal recessive nonsyndromic hearing loss 104 germline Detail
Benign 2024-01-31 criteria provided, single submitter not provided germline Detail
CIViC
[No Data.]
DisGeNET
[No Data.]
Annotation

Annotations

DescrptionSourceLinks
NM_001286445.3(RIPOR2):c.2540G>A (p.Arg847Gln) AND not specified ClinVar Detail
NM_001286445.3(RIPOR2):c.2540G>A (p.Arg847Gln) AND Autosomal recessive nonsyndromic hearing loss 104 ClinVar Detail
NM_001286445.3(RIPOR2):c.2540G>A (p.Arg847Gln) AND not provided 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
rs9461073 dbSNP
Genome
hg38
Position
chr6:24,828,262-24,828,262
Variant Type
snv
Reference Allele
C
Alternative Allele
T
Filtering Status (HGVD)
PASS
# of samples (HGVD)
892
Mean of sample read depth (HGVD)
17.58
Standard deviation of sample read depth (HGVD)
22.45
Number of reference allele (HGVD)
1377
Number of alternative allele (HGVD)
407
Allele Frequency (HGVD)
0.2281390134529148
Gene Symbol (HGVD)
FAM65B
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))
rs9461073
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.2148
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
3600
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
East Asian Chromosome Counts (ExAC)
596
East Asian Allele Counts (ExAC)
114
East Asian Heterozygous Counts (ExAC)
90
East Asian Homozygous Counts (ExAC)
12
East Asian Allele Frequency (ExAC)
0.1912751677852349
Chromosome Counts in All Race (ExAC)
21168
Allele Counts in All Race (ExAC)
4201
Heterozygous Counts in All Race (ExAC)
3315
Homozygous Counts in All Race (ExAC)
443
Allele Frequency in All Race (ExAC)
0.1984599395313681
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