chr9:126615487:C>T Detail (hg38) (LMX1B)

Information

Genome

Assembly Position
hg19 chr9:129,377,766-129,377,766 View the variant detail on this assembly version.
hg38 chr9:126,615,487-126,615,487

HGVS

Type Transcript Protein
RefSeq NM_001174146.1:c.244C>T NP_001167617.1:p.Gln82Ter
NM_001174147.1:c.244C>T NP_001167618.1:p.Gln82Ter
NM_002316.3:c.244C>T NP_002307.2:p.Gln82Ter
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance Pathogenic
Review star
Show details
Links
Type Database ID Link
Gene MIM 602575 OMIM
HGNC 6654 HGNC
Ensembl ENSG00000136944 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
Pathogenic 1998-07-01 no assertion criteria provided nail-patella syndrome germline Detail
Pathogenic 2023-11-04 criteria provided, multiple submitters, no conflicts not provided germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.592 nail-patella syndrome NA CLINVAR Detail
Annotation

Annotations

DescrptionSourceLinks
NM_001174147.2(LMX1B):c.244C>T (p.Gln82Ter) AND Nail-patella syndrome ClinVar Detail
NM_001174147.2(LMX1B):c.244C>T (p.Gln82Ter) AND not provided 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
rs121909489 dbSNP
Genome
hg38
Position
chr9:126,615,487-126,615,487
Variant Type
snv
Reference Allele
C
Alternative Allele
T
Genome browser