15:101114093-101114096 GATG > -

Classification

Category 1

CMH MAF

1 / 13144 samples (0.00761%)
1 het., 0 hom. (100%)
1 / 26288 total alleles (0.0038%)

Genes

Consequences
gene: LINS1 synonym(s): LINS1, WINS1, LINS, ENSG00000140471

ENST00000314742.8 [CDS] Reportable
hgvs_c: ENST00000314742.8:c.982_985del
reference AA: HH
variant AA: X
reference codon: CATCat
variant codon: at
cDNA pos: 1205
CDS pos: 982
translation impact: frameshift
protein sequence: ENSP00000318423.8
AA pos: 328
hgvs_p: ENSP00000318423.8:p.His328MetfsTer2
blosum: -1

dbSNP

rs774968400
TOPMED_MAF = 0.00000796381243628

ClinVar

120182
clinvar_significance = Pathogenic
clinvar_disease = Mental retardation

ExAC

ExAC
Ethnicity Count / Number MAF
African 0 / 10350 0%
America/Latino 0 / 11572 0%
East Asian 0 / 8648 0%
Finnish 0 / 6614 0%
Non-Finnish 2 / 66668 0.003%
Other 0 / 908 0%
South Asian 3 / 16504 0.0182%
Total MAF 5 / 121264 0.00412%

gnomAD

gnomAD
Source: Exome

Ethnicity Count / Number MAF
African 0 / 16234 0%
America/Latino 0 / 34586 0%
Ashkenazi Jewish 0 / 10070 0%
East Asian 0 / 18394 0%
Finnish 1 / 21642 0.00462%
Non-Finnish 2 / 113426 0.00176%
Other 0 / 6128 0%
South Asian 3 / 30610 0.0098%
Korean 0 / 3818 0%
Japanese 0 / 152 0%
Other East Asian 0 / 14424 0%
Bulgarian 0 / 2670 0%
Estonian 0 / 242 0%
North-Western European 0 / 42030 0%
Southern European 0 / 11470 0%
Swedish 0 / 26130 0%
Other non-Finnish European 2 / 30884 0.00648%
Total MAF 6 / 251090 0.00239%


Export Variant

Curation

Likely pathogenic