Variant #0000558791 (NC_000016.9:g.67978009G>A, LCAT(NM_000229.1):c.-5C>T)
Chromosome |
16 |
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.67978009G>A |
DNA change (hg38) |
g.67944106G>A |
Published as |
LCAT(NM_000229.1):c.-5C>T, SLC12A4(NM_005072.4):c.*734C>T |
ISCN |
- |
DB-ID |
LCAT_000164 |
Variant remarks |
VKGL data sharing initiative Nederland |
Reference |
- |
ClinVar ID |
- |
dbSNP ID |
- |
Origin |
CLASSIFICATION record |
Segregation |
- |
Frequency |
- |
Re-site |
- |
VIP |
- |
Methylation |
- |
Average frequency (large NGS studies) |
1.0E-5 View details |
Owner |
VKGL-NL_AMC |

Variant on transcripts
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