chr16:3254567:C>G Detail (hg38) (MEFV)

Information

Genome

Assembly Position
hg19 chr16:3,304,567-3,304,567 View the variant detail on this assembly version.
hg38 chr16:3,254,567-3,254,567

HGVS

Type Transcript Protein
RefSeq NM_000243.2:c.501G>C NP_000234.1:p.Glu167Asp
NM_001198536.1:c.277+1744G>C
Ensemble ENST00000219596.6:c.501G>C ENST00000219596.6:p.Glu167Asp
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

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

Prediction

ClinVar

Clinical Significance Conflicting classifications of pathogenicity
Review star
Show details
Links
Type Database ID Link
Gene MIM 608107 OMIM
HGNC 6998 HGNC
Ensembl ENSG00000103313 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Conflicting interpretations of pathogenicity 2022-11-03 criteria provided, conflicting interpretations familial Mediterranean fever germline not provided unknown Detail
Pathogenic 2019-10-30 criteria provided, multiple submitters, no conflicts familial Mediterranean fever germline Detail
Conflicting interpretations of pathogenicity 2022-02-04 criteria provided, conflicting interpretations not provided germline Detail
Uncertain significance 2022-10-24 criteria provided, multiple submitters, no conflicts Familial Mediterranean fever, autosomal dominant unknown Detail
Likely pathogenic 2021-09-09 criteria provided, single submitter Autoinflammatory syndrome germline Detail
Uncertain significance 2023-04-06 criteria provided, single submitter not specified germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.753 familial Mediterranean fever NA CLINVAR Detail
Annotation

Annotations

DescrptionSourceLinks
NM_000243.3(MEFV):c.501G>C (p.Glu167Asp) AND Familial Mediterranean fever ClinVar Detail
NM_000243.2(MEFV):c.[1437C>G;501G>C] AND Familial Mediterranean fever ClinVar Detail
NM_000243.3(MEFV):c.501G>C (p.Glu167Asp) AND not provided ClinVar Detail
NM_000243.3(MEFV):c.501G>C (p.Glu167Asp) AND Familial Mediterranean fever, autosomal dominant ClinVar Detail
NM_000243.3(MEFV):c.501G>C (p.Glu167Asp) AND Autoinflammatory syndrome ClinVar Detail
NM_000243.3(MEFV):c.501G>C (p.Glu167Asp) AND not specified ClinVar Detail
NA 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
rs104895079 dbSNP
Genome
hg38
Position
chr16:3,254,567-3,254,567
Variant Type
snv
Reference Allele
C
Alternative Allele
G
East Asian Chromosome Counts (ExAC)
1704
East Asian Allele Counts (ExAC)
0
East Asian Heterozygous Counts (ExAC)
0
East Asian Homozygous Counts (ExAC)
0
East Asian Allele Frequency (ExAC)
0.0
Chromosome Counts in All Race (ExAC)
29174
Allele Counts in All Race (ExAC)
1
Heterozygous Counts in All Race (ExAC)
1
Homozygous Counts in All Race (ExAC)
0
Allele Frequency in All Race (ExAC)
3.427709604442312E-5
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