chr20:6119441:A>G Detail (hg38) (FERMT1)

Information

Genome

Assembly Position
hg19 chr20:6,100,088-6,100,088 View the variant detail on this assembly version.
hg38 chr20:6,119,441-6,119,441

HGVS

Type Transcript Protein
RefSeq NM_017671.4:c.114T>C NP_060141.3:p.His38=
Ensemble ENST00000217289.9:c.114T>C ENST00000217289.9:p.His38=
ENST00000699095.1:c.114T>C ENST00000699095.1:p.His38=
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:0.364
ToMMo:0.370
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:0.381

Prediction

ClinVar

Clinical Significance Benign
Review star
Show details
Links
Type Database ID Link
Gene MIM 607900 OMIM
HGNC 15889 HGNC
Ensembl ENSG00000101311 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv63010839 TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Benign 2024-01-24 criteria provided, multiple submitters, no conflicts not specified germline Detail
Benign 2021-08-10 criteria provided, multiple submitters, no conflicts Kindler syndrome germline Detail
Benign 2024-02-01 criteria provided, multiple submitters, no conflicts not provided germline Detail
CIViC
[No Data.]
DisGeNET
[No Data.]
Annotation

Annotations

DescrptionSourceLinks
NM_017671.5(FERMT1):c.114T>C (p.His38=) AND not specified ClinVar Detail
NM_017671.5(FERMT1):c.114T>C (p.His38=) AND Kindler syndrome ClinVar Detail
NM_017671.5(FERMT1):c.114T>C (p.His38=) 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
rs10373 dbSNP
Genome
hg38
Position
chr20:6,119,441-6,119,441
Variant Type
snv
Reference Allele
A
Alternative Allele
G
Filtering Status (HGVD)
PASS
# of samples (HGVD)
1210
Mean of sample read depth (HGVD)
87.12
Standard deviation of sample read depth (HGVD)
36.78
Number of reference allele (HGVD)
1538
Number of alternative allele (HGVD)
882
Allele Frequency (HGVD)
0.36446280991735536
Gene Symbol (HGVD)
FERMT1
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))
rs10373
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.3696
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
6194
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
East Asian Chromosome Counts (ExAC)
8624
East Asian Allele Counts (ExAC)
3288
East Asian Heterozygous Counts (ExAC)
2088
East Asian Homozygous Counts (ExAC)
600
East Asian Allele Frequency (ExAC)
0.3812615955473098
Chromosome Counts in All Race (ExAC)
121320
Allele Counts in All Race (ExAC)
63605
Heterozygous Counts in All Race (ExAC)
29621
Homozygous Counts in All Race (ExAC)
16992
Allele Frequency in All Race (ExAC)
0.5242746455654468
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