chr16:3247171:G>A Detail (hg38) (MEFV)

Information

Genome

Assembly Position
hg19 chr16:3,297,171-3,297,171 View the variant detail on this assembly version.
hg38 chr16:3,247,171-3,247,171

HGVS

Type Transcript Protein
RefSeq NM_000243.2:c.1432C>T NP_000234.1:p.His478Tyr
NM_001198536.1:c.799C>T NP_001185465.1:p.His267Tyr
Ensemble ENST00000219596.6:c.1432C>T ENST00000219596.6:p.His478Tyr
Summary

MGeND

Clinical significance Likely pathogenic
Variant entry 1
GWAS entry
Disease area statistics Show details

Frequency

[No Data.]

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
MGeND
Clinical significance Last evaluated Condition Origin Submission ID Submitter Institute Citation Comment Image
Likely pathogenic tumor necrosis factor receptor associated periodic syndrome (TRAPS) germline MGS000001
(TMGS000137) 		Kenjiro Kosaki Keio University
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Likely benign 2023-02-08 criteria provided, single submitter Familial Mediterranean fever, autosomal dominant germline Detail
Uncertain significance 2023-02-08 criteria provided, multiple submitters, no conflicts familial Mediterranean fever germline not provided unknown Detail
Uncertain significance 2022-07-01 criteria provided, multiple submitters, no conflicts not provided germline Detail
Likely benign 2023-02-08 criteria provided, single submitter Acute febrile neutrophilic dermatosis germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.753 familial Mediterranean fever NA CLINVAR Detail
0.002 Reactive systemic amyloidosis A severe autosomal-dominant periodic inflammatory disorder with renal AA amyloid... BeFree 14679589 Detail
0.360 Familial Mediterranean fever, autosomal dominant NA CLINVAR Detail
0.002 AA amyloidosis A severe autosomal-dominant periodic inflammatory disorder with renal AA amyloid... BeFree 14679589 Detail
0.001 Inflammatory disorder A severe autosomal-dominant periodic inflammatory disorder with renal AA amyloid... BeFree 14679589 Detail
0.753 familial Mediterranean fever A severe autosomal-dominant periodic inflammatory disorder with renal AA amyloid... BeFree 14679589 Detail
0.004 Hereditary Autoinflammatory Diseases We conclude that the new H478Y MEFV mutation is the dominant pathological varian... BeFree 14679589 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_000243.3(MEFV):c.1432C>T (p.His478Tyr) AND Familial Mediterranean fever, autosomal dominant ClinVar Detail
NM_000243.3(MEFV):c.1432C>T (p.His478Tyr) AND Familial Mediterranean fever ClinVar Detail
NM_000243.3(MEFV):c.1432C>T (p.His478Tyr) AND not provided ClinVar Detail
NM_000243.3(MEFV):c.1432C>T (p.His478Tyr) AND Acute febrile neutrophilic dermatosis ClinVar Detail
NA DisGeNET Detail
A severe autosomal-dominant periodic inflammatory disorder with renal AA amyloidosis and colchicine ... DisGeNET Detail
NA DisGeNET Detail
A severe autosomal-dominant periodic inflammatory disorder with renal AA amyloidosis and colchicine ... DisGeNET Detail
A severe autosomal-dominant periodic inflammatory disorder with renal AA amyloidosis and colchicine ... DisGeNET Detail
A severe autosomal-dominant periodic inflammatory disorder with renal AA amyloidosis and colchicine ... DisGeNET Detail
We conclude that the new H478Y MEFV mutation is the dominant pathological variant causing the inflam... 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
rs104895105 dbSNP
Genome
hg38
Position
chr16:3,247,171-3,247,171
Variant Type
snv
Reference Allele
G
Alternative Allele
A
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