chr9:128541952:C>G Detail (hg38) (GLE1, LOC101929270)

Information

Genome

Assembly Position
hg19 chr9:131,304,231-131,304,231 View the variant detail on this assembly version.
hg38 chr9:128,541,952-128,541,952

HGVS

Type Transcript Protein
RefSeq NM_001003722.1:c.*782C>G
Ensemble ENST00000309971.9:c.*782C>G
ENST00000683748.1:c.*782C>G
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance Uncertain significance
Review star
Show details
Links
Type Database ID Link
Gene MIM 603371 OMIM
HGNC 4315 HGNC
Ensembl ENSG00000119392 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
Uncertain significance 2018-01-13 criteria provided, single submitter lethal congenital contracture syndrome 1 germline Detail
Uncertain significance 2018-01-13 criteria provided, single submitter Lethal arthrogryposis-anterior horn cell disease syndrome germline Detail
CIViC
[No Data.]
DisGeNET
[No Data.]
Annotation

Annotations

DescrptionSourceLinks
NM_001003722.2(GLE1):c.*782C>G AND Lethal congenital contracture syndrome 1 ClinVar Detail
NM_001003722.2(GLE1):c.*782C>G AND Lethal arthrogryposis-anterior horn cell disease syndrome 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
rs886063494 dbSNP
Genome
hg38
Position
chr9:128,541,952-128,541,952
Variant Type
snv
Reference Allele
C
Alternative Allele
G
Genome browser