chr11:125899568:A>G Detail (hg38) (PUS3, HYLS1)

Information

Genome

Assembly Position
hg19 chr11:125,769,463-125,769,463 View the variant detail on this assembly version.
hg38 chr11:125,899,568-125,899,568

HGVS

Type Transcript Protein
RefSeq NM_145014.2:c.200A>G NP_659451.1:p.Gln67Arg
NM_001134793.1:c.200A>G NP_001128265.1:p.Gln67Arg
Ensemble ENST00000356438.7:c.200A>G ENST00000356438.7:p.Gln67Arg
Type Transcript Protein
RefSeq NM_031307.3:c.-46-3238T>C
NM_001271985.1:c.-247+3602T>C
Ensemble ENST00000227474.8:c.-46-3238T>C
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 610693 OMIM
HGNC 26558 HGNC
Ensembl ENSG00000198331 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar
COSMIC
MONDO
Type Database ID Link
Gene MIM 616283 OMIM
HGNC 25461 HGNC
Ensembl ENSG00000110060 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 2020-08-28 no assertion criteria provided hydrolethalus syndrome germline Detail
CIViC
[No Data.]
DisGeNET
[No Data.]
Annotation

Annotations

DescrptionSourceLinks
NM_001134793.2(HYLS1):c.200A>G (p.Gln67Arg) AND Hydrolethalus 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
rs1944696406 dbSNP
Genome
hg38
Position
chr11:125,899,568-125,899,568
Variant Type
snv
Reference Allele
A
Alternative Allele
G
Genome browser