Variant #0000786782 (NC_000009.11:g.123280877G>T, NM_018249.4:c.1139C>A (CDK5RAP2))
Individual ID |
00374237 |
Chromosome |
9 |
Allele |
Unknown |
Affects function (as reported) |
Probably affects function |
Affects function (by curator) |
Not classified |
Classification method |
- |
Clinical classification |
likely pathogenic |
DNA change (genomic) (Relative to hg19 / GRCh37) |
g.123280877G>T |
DNA change (hg38) |
g.120518599G>T |
Published as |
- |
ISCN |
- |
DB-ID |
CDK5RAP2_000095 |
Variant remarks |
no variant 2nd chromosome |
Reference |
PubMed: Ganapathy 2019 |
ClinVar ID |
- |
dbSNP ID |
- |
Origin |
Germline |
Segregation |
- |
Frequency |
- |
Re-site |
- |
VIP |
- |
Methylation |
- |
Average frequency (gnomAD v.2.1.1) |
Retrieve |
Owner |
Johan den Dunnen |
Database submission license |
Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International |
Created by |
Johan den Dunnen |
Date created |
2021-05-24 20:06:48 +02:00 (CEST) |
Date last edited |
N/A |

Variant on transcripts
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