chrX:68058527:C>T Detail (hg19) (EFNB1)

Information

Genome

Assembly Position
hg19 chrX:68,058,527-68,058,527
hg38 chrX:68,838,684-68,838,684 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_004429.4:c.196C>T NP_004420.1:p.Arg66Ter
Ensemble ENST00000204961.5:c.196C>T ENST00000204961.5:p.Arg66Ter
Summary

MGeND

Clinical significance Pathogenic
Variant entry 1
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 300035 OMIM
HGNC 3226 HGNC
Ensembl ENSG00000090776 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
Pathogenic other germline MGS000001
(TMGS000137) 		Kenjiro Kosaki Keio University
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Pathogenic 2020-06-05 criteria provided, single submitter craniofrontonasal syndrome germline Detail
Pathogenic 2023-10-11 criteria provided, multiple submitters, no conflicts not provided germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.565 Craniofrontonasal dysplasia NA CLINVAR Detail
Annotation

Annotations

DescrptionSourceLinks
NM_004429.5(EFNB1):c.196C>T (p.Arg66Ter) AND Craniofrontonasal syndrome ClinVar Detail
NM_004429.5(EFNB1):c.196C>T (p.Arg66Ter) 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
rs104894804 dbSNP
Genome
hg19
Position
chrX:68,058,527-68,058,527
Variant Type
snv
Reference Allele
C
Alternative Allele
T
Genome browser