chr8:71271753:C>T Detail (hg38) (EYA1)

Information

Genome

Assembly Position
hg19 chr8:72,183,988-72,183,988 View the variant detail on this assembly version.
hg38 chr8:71,271,753-71,271,753

HGVS

Type Transcript Protein
RefSeq NM_000503.5:c.966+5G>A
NM_001288574.1:c.966+5G>A
NM_001288575.1:c.966+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 601653 OMIM
HGNC 3519 HGNC
Ensembl ENSG00000104313 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 criteria provided, single submitter branchiootorenal syndrome 1 de novo germline Detail
Pathogenic 2019-07-26 criteria provided, single submitter not provided germline Detail
Pathogenic 2021-06-24 criteria provided, single submitter Melnick-Fraser syndrome germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.584 Branchio-Oto-Renal Syndrome NA CLINVAR Detail
Annotation

Annotations

DescrptionSourceLinks
NM_000503.6(EYA1):c.966+5G>A AND Branchiootorenal syndrome 1 ClinVar Detail
NM_000503.6(EYA1):c.966+5G>A AND not provided ClinVar Detail
NM_000503.6(EYA1):c.966+5G>A AND Melnick-Fraser syndrome ClinVar Detail
NA DisGeNET Detail

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs606231357 dbSNP
Genome
hg38
Position
chr8:71,271,753-71,271,753
Variant Type
snv
Reference Allele
C
Alternative Allele
T
Genome browser