chr19:8308268:T>C Detail (hg38) (CD320)

Information

Genome

Assembly Position
hg19 chr19:8,373,152-8,373,152 View the variant detail on this assembly version.
hg38 chr19:8,308,268-8,308,268

HGVS

Type Transcript Protein
RefSeq NM_016579.3:c.23A>G NP_057663.1:p.Gln8Arg
NM_001165895.1:c.23A>G NP_001159367.1:p.Gln8Arg
Ensemble ENST00000301458.10:c.23A>G ENST00000301458.10:p.Gln8Arg
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:0.052
ToMMo:0.051
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:0.144

Prediction

ClinVar

Clinical Significance Benign
Review star
Show details
Links
Type Database ID Link
Gene MIM 606475 OMIM
HGNC 16692 HGNC
Ensembl ENSG00000167775 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv61074376 TogoVar
COSMIC COSM3693239 COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Benign 2013-10-03 criteria provided, single submitter not specified germline Detail
Benign 2024-01-28 criteria provided, single submitter methylmalonic acidemia due to transcobalamin receptor defect germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.003 Congenital omphalocele In the total study population, variants in the transcobalamin receptor gene (TCb... BeFree 22116453 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_016579.4(CD320):c.23A>G (p.Gln8Arg) AND not specified ClinVar Detail
NM_016579.4(CD320):c.23A>G (p.Gln8Arg) AND Methylmalonic acidemia due to transcobalamin receptor def... ClinVar Detail
In the total study population, variants in the transcobalamin receptor gene (TCblR), rs2232775 (p.Q8... 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
rs2232775 dbSNP
Genome
hg38
Position
chr19:8,308,268-8,308,268
Variant Type
snv
Reference Allele
T
Alternative Allele
C
Filtering Status (HGVD)
PASS
# of samples (HGVD)
1151
Mean of sample read depth (HGVD)
37.82
Standard deviation of sample read depth (HGVD)
18.98
Number of reference allele (HGVD)
2182
Number of alternative allele (HGVD)
120
Allele Frequency (HGVD)
0.052128583840139006
Gene Symbol (HGVD)
CD320
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))
rs2232775
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.0511
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
856
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16752
East Asian Chromosome Counts (ExAC)
3500
East Asian Allele Counts (ExAC)
504
East Asian Heterozygous Counts (ExAC)
466
East Asian Homozygous Counts (ExAC)
19
East Asian Allele Frequency (ExAC)
0.144
Chromosome Counts in All Race (ExAC)
44788
Allele Counts in All Race (ExAC)
6284
Heterozygous Counts in All Race (ExAC)
5028
Homozygous Counts in All Race (ExAC)
628
Allele Frequency in All Race (ExAC)
0.14030543895686345
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