chr7:5529594:C>T Detail (hg38) (ACTB)
Information
Genome
Assembly | Position |
---|---|
hg19 | chr7:5,569,225-5,569,225 View the variant detail on this assembly version. |
hg38 | chr7:5,529,594-5,529,594 |
HGVS
Type | Transcript | Protein |
---|---|---|
RefSeq | ||
Ensemble | ENST00000432588.6:c.64G>A | ENST00000432588.6:p.Ala22Thr |
ENST00000473257.3:c.-6-194G>A |
Summary
MGeND
Clinical significance | |
Variant entry | |
GWAS entry | |
Disease area statistics | Show details |
Frequency
JP | HGVD:0.006 |
ToMMo:[No Data.] | |
NCBN:[No Data.] | |
NCBN(Hondo):[No Data.] | |
NCBN(Ryukyu):[No Data.] | |
East asia | ExAC:[No Data.] |
Prediction
ClinVar
Clinical Significance |
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Review star | ![]() |
Show details |
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
---|---|---|---|---|---|
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2013-08-15 | criteria provided, single submitter | 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 |
Annotation
Annotations
Descrption | Source | Links |
---|---|---|
NM_001101.5(ACTB):c.64G>A (p.Ala22Thr) AND Baraitser-Winter syndrome 1 | ClinVar | Detail |
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
- rs587780273 dbSNP
- Genome
- hg38
- Position
- chr7:5,529,594-5,529,594
- Variant Type
- snv
- Reference Allele
- C
- Alternative Allele
- T
- Filtering Status (HGVD)
- PASS
- Filtering Status (HGVD)
- LowQual
- # of samples (HGVD)
- 1196
- Mean of sample read depth (HGVD)
- 72.90
- Standard deviation of sample read depth (HGVD)
- 36.54
- Number of reference allele (HGVD)
- 2377
- Number of alternative allele (HGVD)
- 15
- Allele Frequency (HGVD)
- 0.006270903010033445
- Gene Symbol (HGVD)
- ACTB
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