chr8:71215613:C>G Detail (hg38) (EYA1)
Information
Genome
Assembly | Position |
---|---|
hg19 | chr8:72,127,848-72,127,848 View the variant detail on this assembly version. |
hg38 | chr8:71,215,613-71,215,613 |
HGVS
Type | Transcript | Protein |
---|---|---|
RefSeq | NM_000503.5:c.1475+1G>C | |
NM_001288574.1:c.1475+1G>C | ||
NM_001288575.1:c.1475+1G>C |
Summary
MGeND
Clinical significance | |
Variant entry | |
GWAS entry | |
Disease area statistics | Show details |
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
---|---|---|---|---|---|
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2014-02-17 | criteria provided, single submitter | Rare genetic deafness |
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Detail |
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2021-07-13 | criteria provided, single submitter | Branchiootic syndrome 1,branchiootorenal syndrome 1,Otofaciocervical syndrome 1 |
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Detail |
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2021-07-13 | criteria provided, single submitter | Branchiootic syndrome 1,branchiootorenal syndrome 1,Otofaciocervical syndrome 1 |
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Detail |
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2021-07-13 | criteria provided, single submitter | Branchiootic syndrome 1,branchiootorenal syndrome 1,Otofaciocervical syndrome 1 |
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Detail |
CIViC
[No Data.]
DisGeNET
Score | Disease name | Description | Source | Pubmed | Links |
---|---|---|---|---|---|
0.584 | Branchio-Oto-Renal Syndrome | NA | CLINVAR | Detail |
Annotation
Annotations
Descrption | Source | Links |
---|---|---|
NM_000503.6(EYA1):c.1475+1G>C AND Rare genetic deafness | ClinVar | Detail |
NM_000503.6(EYA1):c.1475+1G>C AND multiple conditions | ClinVar | Detail |
NM_000503.6(EYA1):c.1475+1G>C AND multiple conditions | ClinVar | Detail |
NM_000503.6(EYA1):c.1475+1G>C AND multiple conditions | ClinVar | Detail |
NA | DisGeNET | Detail |
Overlapped Transcript
Gene | Transcript ID | Chromosome | Start | Stop | Links |
---|
- Gene
- -
- dbSNP
- rs727503042 dbSNP
- Genome
- hg38
- Position
- chr8:71,215,613-71,215,613
- Variant Type
- snv
- Reference Allele
- C
- Alternative Allele
- G
Genome browser