Variant #0000619064 (NC_000023.10:g.139866052G>A, CDR1(NM_004065.2):c.480C>T)
Chromosome |
X |
Allele |
Unknown |
Affects function (as reported) |
Probably does not affect function |
Affects function (by curator) |
Not classified |
Classification method |
- |
Clinical classification |
likely benign |
DNA change (genomic) (Relative to hg19 / GRCh37) |
g.139866052G>A |
DNA change (hg38) |
g.140783887G>A |
Published as |
CDR1(NM_004065.2):c.480C>T (p.S160=) |
ISCN |
- |
DB-ID |
CDR1_000009 |
Variant remarks |
VKGL data sharing initiative Nederland |
Reference |
- |
ClinVar ID |
- |
dbSNP ID |
- |
Origin |
CLASSIFICATION record |
Segregation |
- |
Frequency |
- |
Re-site |
- |
VIP |
- |
Methylation |
- |
Average frequency (gnomAD v.2.1.1) |
0.00013 View details |
Owner |
VKGL-NL_Rotterdam |
Database submission license |
Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International |
Created by |
VKGL-NL_Rotterdam |

Variant on transcripts
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