Unique variants in gene KERA

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

13 entries on 1 page. Showing entries 1 - 13.
Legend  

Effect     

Reported     

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     

DNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Owner     
-/. 1 - c.-132C>T benign - - g.91451644G>A - KERA:NM_007035.3:c.-132A>G (?) - KERA_000013 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-/. 1 - c.-131A>C benign - - g.91451643T>G - KERA:NM_007035.3:c.-131C>A (?) - KERA_000012 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. 1 - c.27G>A likely benign r.(?) p.(Met9Ile) g.91450032C>T - KERA:c.27G>A (M9I) - KERA_000010 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. 1 - c.69G>A benign r.(=) p.(=) g.91449990C>T - KERA:c.69G>A (=) - KERA_000009 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
+?/+? 1 2 c.320T>G - r.(?) p.(Ile107Arg) g.91449739A>C g.91055962A>C - - KERA_000008 1 Czech patient (com-het) with CNA2 PubMed: Dudakova et al 2014 - - SUMMARY record yes - - - - Anne Polvi
+?/+? 1 2 c.391A>G - r.(391a>g) p.(Asn131Asp) g.91449668T>C g.91055891T>C A391G: Asn131Asp - KERA_000001 1 Hispanic CNA2 family (hom) PubMed: Ebenezer et la 2005 - - SUMMARY record yes 0/130 CON - - - Anne Polvi
+/+ 1 2 c.520C>T - r.(520c>u) p.(Gln174*) g.91449539G>A g.91055762G>A CAG>TAG in exon 2: Q174X - KERA_000002 1 American CNA2 patient (hom) PubMed: Pellegata et al. 2000 - rs121917860 SUMMARY record yes - - - - Anne Polvi
+?/+? 1 2 c.644C>A - r.(644c>a) p.(Thr215Lys) g.91449415G>T g.91055638G>T T215K - KERA_000003 1 Bangladeshi CNA2 family (hom) PubMed: Lehmann et al. 2001 - rs121917862 SUMMARY record yes - - - - Anne Polvi
+/., +?/+? 2 2 c.740A>G pathogenic r.(?), r.(740a>g) p.(Asn247Ser) g.91449319T>C g.91055542T>C KERA:NM_007035.3:c.740A>G (Asn247SerAsn247Ser), AAC>AGC at codon 247: Asn247Ser - KERA_000004 VKGL data sharing initiative Nederland; correct HGVS to be checked, 1 more item PubMed: Pellegata et al. 2000, PubMed: Liskova et al. 2007 - rs121917858 CLASSIFICATION record, SUMMARY record yes 2/807 FIN (het) - - - VKGL-NL_Nijmegen, Anne Polvi
+/+ 1 2 c.835C>T - r.(835c>u) p.(Arg279*) g.91449224G>A g.91055447G>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 - - - - Anne Polvi
-/. 1 - c.887-8C>T benign r.(=) p.(=) g.91445303G>A - KERA:NM_007035.3:c.887-8C>T (?) - KERA_000011 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/+ 1 3 c.937C>T - r.(937c>u) p.(Arg313*) g.91445245G>A g.91051468G>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 - - - - Anne Polvi
+/+ 1 3 c.1026delC - r.(1026delc) p.(Cys343Alafs*26) g.91445156delG g.91051379delG 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 - - - - Anne Polvi
Legend