Individual #00100098

ID_report PKRD176;61176
Reference PubMed: Maranha 2015, Journal: Maranhao 2015, PubMed: Li 2017
Remarks -
Gender M
Consanguinity yes
Country Pakistan
Population Pakistani
Age at death -
VIP -
Data_av -
Treatment -
Panel size 1
Diseases retinal disease
Owner name James Hejtmancik
Database submission license Creative Commons Attribution 4.0 InternationalCreative Commons License
Created by James Hejtmancik
Date created 2017-01-30 18:48:01 +01:00 (CET)
Date last edited 2021-03-02 10:49:55 +01:00 (CET)


Stop! No phenotypes found for this individual!



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000100502 DNA SEQ WBC - FAM161A 7 James Hejtmancik



Variants

7 entries on 1 page. Showing entries 1 - 7.
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Chr     

Allele     

Effect     

Classification method     

Clinical classification     

AscendingDNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

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VIP     

Methylation     

Owner     

Gene     

IDbase Accession Number     

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Exon     

DNA change (cDNA)     

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RNA change     

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Exon_old     

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Predicted     

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CpG     

Enzyme activity     

mRNA level     

Predict-BioInf     

Legacy protein change     

Protein level     
2 Both (homozygous) +/. - pathogenic g.62063228T>A g.61836093T>A - - FAM161A_000020 - PubMed: Li 2017 - - Germline yes - - - - James Hejtmancik FAM161A - - - - 5 NM_001201543.1:c.1768A>T - r.(?) p.(Arg590Trp) - - - - - - - - - - - - - -
2 Both (homozygous) +?/. - likely pathogenic g.73678899A>G g.73451772A>G 5242A>G (T1748A) - ALMS1_000510 - PubMed: Maranha 2015, Journal: Maranhao 2015 - rs546111188 Germline - - - - - LOVD ALMS1 - - - - - NM_001378454.1:c.5245A>G - r.(?) p.(Thr1749Ala) - - - - - - - - - - - - - -
4 Both (homozygous) -?/. - likely benign g.110772711C>T g.109851555C>T - - LRIT3_000037 - PubMed: Maranha 2015, Journal: Maranhao 2015 - rs17040904 Germline - - - - - LOVD LRIT3 - - - - - NM_198506.4:c.168C>T - r.(?) p.(Pro56=) - - - - - - - - - - - - - -
11 Both (homozygous) -?/. - likely benign g.17531146G>A g.17509599G>A - - USH1C_000150 - PubMed: Maranha 2015, Journal: Maranhao 2015 - rs17776775 Germline - - - - - LOVD USH1C - - - - - NM_153676.3:c.1770C>T - r.(?) p.(Ala590=) - - - - - - - - - - - - - -
13 Both (homozygous) -?/. - likely benign g.48921964A>T g.48347828A>T - - RB1_002175 - PubMed: Maranha 2015, Journal: Maranhao 2015 - - Germline - - - - - LOVD RB1 - - - - - NM_000321.2:c.504A>T - r.(?) p.(Thr168=) - - - - - - - - - - - - - -
17 Both (homozygous) -?/. - likely benign g.6386947G>A g.6483627G>A - - PITPNM3_000048 - PubMed: Maranha 2015, Journal: Maranhao 2015 - rs34897053 Germline - - - - - LOVD PITPNM3 - - - - - NM_031220.3:c.477C>T - r.(?) p.(Ser159=) - - - - - - - - - - - - - -
19 Both (homozygous) +?/. - likely pathogenic g.3770938C>T g.3770940C>T - - RAX2_000008 - PubMed: Maranha 2015, Journal: Maranhao 2015 - - Germline - - - - - LOVD RAX2 - - - - - NM_032753.3:c.236G>A - r.(?) p.(Arg79Gln) - - - - - - - - - - - - - -
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