chr2:240785062:C>T Detail (hg38) (KIF1A)
Information
Genome
Assembly | Position |
---|---|
hg19 | chr2:241,724,479-241,724,479 View the variant detail on this assembly version. |
hg38 | chr2:240,785,062-240,785,062 |
HGVS
Type | Transcript | Protein |
---|---|---|
RefSeq | NM_004321.6:c.647G>A | NP_004312.2:p.Arg216His |
NM_001244008.1:c.647G>A | NP_001230937.1:p.Arg216His | |
NM_001320705.1:c.647G>A | NP_001307634.1:p.Arg216His |
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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2020-06-15 | criteria provided, single submitter | Intellectual disability, autosomal dominant 9 |
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Detail |
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2015-08-07 | criteria provided, single submitter | PEHO syndrome |
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Detail |
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2022-05-16 | criteria provided, multiple submitters, no conflicts | not provided |
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Detail |
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no assertion provided | KIF1A-related disorder |
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Detail |
CIViC
[No Data.]
DisGeNET
Score | Disease name | Description | Source | Pubmed | Links |
---|---|---|---|---|---|
0.240 | MENTAL RETARDATION, AUTOSOMAL DOMINANT 9 | NA | CLINVAR | Detail |
Annotation
Annotations
Descrption | Source | Links |
---|---|---|
NM_001244008.2(KIF1A):c.647G>A (p.Arg216His) AND Intellectual disability, autosomal dominant 9 | ClinVar | Detail |
NM_001244008.2(KIF1A):c.647G>A (p.Arg216His) AND PEHO syndrome | ClinVar | Detail |
NM_001244008.2(KIF1A):c.647G>A (p.Arg216His) AND not provided | ClinVar | Detail |
NM_001244008.2(KIF1A):c.647G>A (p.Arg216His) AND KIF1A-related disorder | 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
- rs672601368 dbSNP
- Genome
- hg38
- Position
- chr2:240,785,062-240,785,062
- Variant Type
- snv
- Reference Allele
- C
- Alternative Allele
- T
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