chrX:68839729:A>G Detail (hg38) (EFNB1)

Information

Genome

Assembly Position
hg19 chrX:68,059,572-68,059,572 View the variant detail on this assembly version.
hg38 chrX:68,839,729-68,839,729

HGVS

Type Transcript Protein
RefSeq NM_004429.4:c.472A>G NP_004420.1:p.Met158Val
Ensemble ENST00000204961.5:c.472A>G ENST00000204961.5:p.Met158Val
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 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
Clinical significance Last evaluated Review status Condition Origin Links
Pathogenic 2004-06-08 no assertion criteria provided craniofrontonasal syndrome germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.565 Craniofrontonasal dysplasia NA CLINVAR Detail
0.565 Craniofrontonasal dysplasia Mutations of ephrin-B1 (EFNB1), a marker of tissue boundary formation, cause cra... UNIPROT 15166289 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_004429.5(EFNB1):c.472A>G (p.Met158Val) AND Craniofrontonasal syndrome ClinVar Detail
NA DisGeNET Detail
Mutations of ephrin-B1 (EFNB1), a marker of tissue boundary formation, cause craniofrontonasal syndr... 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
rs28936071 dbSNP
Genome
hg38
Position
chrX:68,839,729-68,839,729
Variant Type
snv
Reference Allele
A
Alternative Allele
G
Genome browser