chr3:195800811:C>T Detail (hg19) (TFRC)

Information

Genome

Assembly Position
hg19 chr3:195,800,811-195,800,811
hg38 chr3:196,073,940-196,073,940 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_001128148.2:c.424G>A NP_001121620.1:p.Gly142Ser
NM_003234.3:c.424G>A NP_003225.2:p.Gly142Ser
NM_001313965.1:c.181G>A NP_001300894.1:p.Gly61Ser
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:0.212
ToMMo:0.208
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:0.141

Prediction

ClinVar

Clinical Significance Benign
Review star
Show details
Links
Type Database ID Link
Gene MIM 190010 OMIM
HGNC 11763 HGNC
Ensembl ENSG00000072274 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv15678569 TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Benign 2024-02-01 criteria provided, single submitter not provided germline Detail
Benign 2021-09-10 criteria provided, single submitter TFRC-related combined immunodeficiency germline Detail
Benign 2023-11-12 criteria provided, single submitter not specified germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.007 Hereditary hemochromatosis Using a multi-ethnic sample of cases and controls from Houston, TX, we examined ... BeFree 25085015 Detail
<0.001 Leukemia, Lymphocytic, Acute, L1 Using a multi-ethnic sample of cases and controls from Houston, TX, we examined ... BeFree 25085015 Detail
<0.001 Leukemia, Lymphocytic, Acute, L1 Using a multi-ethnic sample of cases and controls from Houston, TX, we examined ... BeFree 25085015 Detail
<0.001 Leukemia, Lymphocytic, Acute, L1 Using a multi-ethnic sample of cases and controls from Houston, TX, we examined ... BeFree 25085015 Detail
<0.001 Carcinogenesis Iron metabolism has been implicated in carcinogenesis and several studies assess... BeFree 19258483 Detail
<0.001 ovarian carcinoma In the Prostate, Lung, Colorectal and Ovarian Cancer Screening Trial, 679 person... BeFree 15668490 Detail
<0.001 Malignant neoplasm of ovary In the Prostate, Lung, Colorectal and Ovarian Cancer Screening Trial, 679 person... BeFree 15668490 Detail
<0.001 adenoma In the Prostate, Lung, Colorectal and Ovarian Cancer Screening Trial, 679 person... BeFree 15668490 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_001128148.3(TFRC):c.424G>A (p.Gly142Ser) AND not provided ClinVar Detail
NM_001128148.3(TFRC):c.424G>A (p.Gly142Ser) AND TFRC-related combined immunodeficiency ClinVar Detail
NM_001128148.3(TFRC):c.424G>A (p.Gly142Ser) AND not specified ClinVar Detail
Using a multi-ethnic sample of cases and controls from Houston, TX, we examined two HFE variants (rs... DisGeNET Detail
Using a multi-ethnic sample of cases and controls from Houston, TX, we examined two HFE variants (rs... DisGeNET Detail
Using a multi-ethnic sample of cases and controls from Houston, TX, we examined two HFE variants (rs... DisGeNET Detail
Using a multi-ethnic sample of cases and controls from Houston, TX, we examined two HFE variants (rs... DisGeNET Detail
Iron metabolism has been implicated in carcinogenesis and several studies assessed the potential rol... DisGeNET Detail
In the Prostate, Lung, Colorectal and Ovarian Cancer Screening Trial, 679 persons with advanced dist... DisGeNET Detail
In the Prostate, Lung, Colorectal and Ovarian Cancer Screening Trial, 679 persons with advanced dist... DisGeNET Detail
In the Prostate, Lung, Colorectal and Ovarian Cancer Screening Trial, 679 persons with advanced dist... 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
rs3817672 dbSNP
Genome
hg19
Position
chr3:195,800,811-195,800,811
Variant Type
snv
Reference Allele
C
Alternative Allele
T
Filtering Status (HGVD)
PASS
# of samples (HGVD)
1196
Mean of sample read depth (HGVD)
134.80
Standard deviation of sample read depth (HGVD)
66.14
Number of reference allele (HGVD)
1884
Number of alternative allele (HGVD)
508
Allele Frequency (HGVD)
0.21237458193979933
Gene Symbol (HGVD)
TFRC
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))
rs3817672
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.2078
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
3482
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
East Asian Chromosome Counts (ExAC)
8642
East Asian Allele Counts (ExAC)
1219
East Asian Heterozygous Counts (ExAC)
1065
East Asian Homozygous Counts (ExAC)
77
East Asian Allele Frequency (ExAC)
0.14105531127053922
Chromosome Counts in All Race (ExAC)
120754
Allele Counts in All Race (ExAC)
53980
Heterozygous Counts in All Race (ExAC)
27634
Homozygous Counts in All Race (ExAC)
13173
Allele Frequency in All Race (ExAC)
0.4470245292081422
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