FERMT2 c.*565A>T Detail (hg19) (FERMT2)

Information

Genome

Assembly Position
hg19 chr14:53,324,530-53,324,530
hg38 chr14:52,857,812-52,857,812 

HGVS

Type Transcript Protein
RefSeq NM_001134999.1:c.*565A>T
NM_006832.2:c.*565A>T
Ensemble ENST00000343279.8:c.*565A>T
Summary

MGeND

Clinical significance Benign
Variant entry 0
GWAS entry
Disease area statistics Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance
Review star [No Data.]
Show details
Links
Type Database ID Link
Gene MIM 607746 OMIM
HGNC 15767 HGNC
Ensembl ENSG00000073712 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
Benign 2018/05/23 Aged, 100 and over germline MGS000013
(TMGS000027) 		Hiroshi Mori Osaka City University
ClinVar
[No Data.]
CIViC
[No Data.]
DisGeNET
[No Data.]
Annotation

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
-
Genome
hg19
Position
chr14:53,324,530-53,324,530
Variant Type
snv
Reference Allele
T
Alternative Allele
A
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