Full data view for gene KERA

Information The variants shown are described using the NM_007035.3 transcript reference sequence.

8 entries on 1 page. Showing entries 1 - 8.
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Effect     

Exon     

AscendingDNA change (cDNA)     

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RNA change     

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DNA change (genomic) (hg19)     

DNA change (hg38)     

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ISCN     

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dbSNP ID     

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VIP     

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Panel size     

Owner     
+?/+? 2 c.320T>G - r.(?) p.(Ile107Arg) Unknown g.91449739A>C - - - KERA_000008 1 Czech patient (com-het) with CNA2 PubMed: Dudakova et al 2014 - SUMMARY record yes - - 0 - - - - - - - - - - - - - - - - - - -
+?/+? 2 c.391A>G - r.(391a>g) p.(Asn131Asp) Both (homozygous) g.91449668T>C - A391G: Asn131Asp - KERA_000001 1 Hispanic CNA2 family (hom) PubMed: Ebenezer et la 2005 - SUMMARY record yes 0/130 CON - - - - - - - - - - - - - - - - - - - - -
+/+ 2 c.520C>T - r.(520c>u) p.(Gln174*) Both (homozygous) g.91449539G>A - CAG>TAG in exon 2: Q174X - KERA_000002 1 American CNA2 patient (hom) PubMed: Pellegata et al. 2000 rs121917860 SUMMARY record yes - - - - - - - - - - - - - - - - - - - - - -
+?/+? 2 c.644C>A - r.(644c>a) p.(Thr215Lys) Both (homozygous) g.91449415G>T - T215K - KERA_000003 1 Bangladeshi CNA2 family (hom) PubMed: Lehmann et al. 2001 rs121917862 SUMMARY record yes - - - - - - - - - - - - - - - - - - - - - -
+?/+? 2 c.740A>G - r.(740a>g) p.(Asn247Ser) Both (homozygous) g.91449319T>C - AAC>AGC at codon 247: Asn247Ser - KERA_000004 Finnish major KERA mutation: 46 Finnish CNA2 patients (hom). Also 1 British CNA2 family (hom). PubMed: Pellegata et al. 2000, PubMed: Liskova et al. 2007 rs121917858 SUMMARY record yes 2/807 FIN (het) - - - - - - - - - - - - - - - - - - - - -
+/+ 2 c.835C>T - r.(835c>u) p.(Arg279*) Unknown g.91449224G>A - 1454C>T: R279X - KERA_000005 1 Saudi Arabian CNA2 family (hom) and 1 Czech CNA2 patient (com-het) PubMed: Khan et al. 2005, PubMed: Dudakova et al 2014 - SUMMARY record yes - - 0 - - - - - - - - - - - - - - - - - - -
+/+ 3 c.937C>T - r.(937c>u) p.(Arg313*) Both (homozygous) g.91445245G>A - 937C>T: R313X; 945C>T: R313X - KERA_000006 8 Arabian CNA2 families (hom) PubMed: Khan et al. 2004, PubMed: Khan et al. 2006 rs121917863 SUMMARY record yes - - - - - - - - - - - - - - - - - - - - - -
+/+ 3 c.1026delC - r.(1026delc) p.(Cys343Alafs*26) Both (homozygous) g.91445156delG - 1634delC/ 1033delC (at 342): adds 15 amino acids before premature truncation - KERA_000007 5 Arabian CNA2 families (hom) PubMed: Khan et al. 2006 - SUMMARY record yes - - - - - - - - - - - - - - - - - - - - - -
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