chrX:68838649:C>A Detail (hg38) (EFNB1)

Information

Genome

Assembly Position
hg19 chrX:68,058,492-68,058,492 View the variant detail on this assembly version.
hg38 chrX:68,838,649-68,838,649

HGVS

Type Transcript Protein
RefSeq NM_004429.4:c.161C>A NP_004420.1:p.Pro54Gln
Ensemble ENST00000204961.5:c.161C>A ENST00000204961.5:p.Pro54Gln
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance
Review star [No Data.]
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
[No Data.]
MGeND
[No Data.]
ClinVar
[No Data.]
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.565 Craniofrontonasal dysplasia NA CLINVAR Detail
Annotation

Annotations

DescrptionSourceLinks
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
rs104894801 dbSNP
Genome
hg38
Position
chrX:68,838,649-68,838,649
Variant Type
snv
Reference Allele
C
Alternative Allele
A
Genome browser