chrX:13719866:C>T Detail (hg38) (TRAPPC2, OFD1)

Information

Genome

Assembly Position
hg19 chrX:13,737,985-13,737,985 View the variant detail on this assembly version.
hg38 chrX:13,719,866-13,719,866

HGVS

Type Transcript Protein
RefSeq NM_014563.5:c.93+5G>A
NM_001011658.3:c.93+5G>A
NM_001128835.2:c.93+5G>A
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 300202 OMIM
HGNC 23068 HGNC
Ensembl ENSG00000196459 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 2001-06-01 no assertion criteria provided spondyloepiphyseal dysplasia tarda germline Detail
Pathogenic 2023-09-01 criteria provided, multiple submitters, no conflicts not provided germline Detail
Pathogenic 2022-01-03 criteria provided, single submitter Spondyloepiphyseal dysplasia tarda, X-linked germline Detail
Pathogenic 2021-04-09 criteria provided, single submitter Inborn genetic diseases germline Detail
CIViC
[No Data.]
DisGeNET
[No Data.]
Annotation

Annotations

DescrptionSourceLinks
NM_001011658.4(TRAPPC2):c.93+5G>A AND Spondyloepiphyseal dysplasia tarda ClinVar Detail
NM_001011658.4(TRAPPC2):c.93+5G>A AND not provided ClinVar Detail
NM_001011658.4(TRAPPC2):c.93+5G>A AND Spondyloepiphyseal dysplasia tarda, X-linked ClinVar Detail
NM_001011658.4(TRAPPC2):c.93+5G>A AND Inborn genetic diseases ClinVar Detail

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs587776752 dbSNP
Genome
hg38
Position
chrX:13,719,866-13,719,866
Variant Type
snv
Reference Allele
C
Alternative Allele
T
Genome browser