chr7:5529331:G>A Detail (hg38) (ACTB)
Information
Genome
Assembly | Position |
---|---|
hg19 | chr7:5,568,962-5,568,962 View the variant detail on this assembly version. |
hg38 | chr7:5,529,331-5,529,331 |
HGVS
Type | Transcript | Protein |
---|---|---|
RefSeq | ||
Ensemble | ENST00000432588.6:c.193C>T | ENST00000432588.6:p.Leu65Phe |
ENST00000473257.3:c.64C>T | ENST00000473257.3:p.Leu22Phe |
Summary
MGeND
Clinical significance | |
Variant entry | |
GWAS entry | |
Disease area statistics | Show details |
Frequency
[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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2024-02-12 | criteria provided, single submitter | Baraitser-Winter syndrome 1 |
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Detail |
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2018-12-01 | no assertion criteria provided | intellectual disability |
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Detail |
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2022-09-02 | criteria provided, single submitter | not provided |
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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.193C>T (p.Leu65Phe) AND Baraitser-Winter syndrome 1 | ClinVar | Detail |
NM_001101.5(ACTB):c.193C>T (p.Leu65Phe) AND Intellectual disability | ClinVar | Detail |
NM_001101.5(ACTB):c.193C>T (p.Leu65Phe) AND not provided | 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
- rs281875332 dbSNP
- Genome
- hg38
- Position
- chr7:5,529,331-5,529,331
- Variant Type
- snv
- Reference Allele
- G
- Alternative Allele
- A
Genome browser