chr7:5529624:T>G Detail (hg38) (ACTB)
Information
Genome
Assembly | Position |
---|---|
hg19 | chr7:5,569,255-5,569,255 View the variant detail on this assembly version. |
hg38 | chr7:5,529,624-5,529,624 |
HGVS
Type | Transcript | Protein |
---|---|---|
RefSeq | ||
Ensemble | ENST00000432588.6:c.34A>C | ENST00000432588.6:p.Asn12His |
ENST00000473257.3:c.-6-224A>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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2014-04-15 | no assertion criteria provided | Baraitser-Winter syndrome 1 |
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Detail |
CIViC
[No Data.]
DisGeNET
Score | Disease name | Description | Source | Pubmed | Links |
---|---|---|---|---|---|
0.240 | Iris Coloboma with Ptosis, Hypertelorism, and Mental Retardation | NA | CLINVAR | Detail | |
0.240 | Iris Coloboma with Ptosis, Hypertelorism, and Mental Retardation | De novo mutations in the actin genes ACTB and ACTG1 cause Baraitser-Winter syndr... | UNIPROT | 22366783 | Detail |
Annotation
Annotations
Descrption | Source | Links |
---|---|---|
NM_001101.5(ACTB):c.34A>C (p.Asn12His) AND Baraitser-Winter syndrome 1 | ClinVar | Detail |
NA | DisGeNET | Detail |
De novo mutations in the actin genes ACTB and ACTG1 cause Baraitser-Winter syndrome. | 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
- rs281875331 dbSNP
- Genome
- hg38
- Position
- chr7:5,529,624-5,529,624
- Variant Type
- snv
- Reference Allele
- T
- Alternative Allele
- G
Genome browser