Unique variants in the HCCS gene

Information The variants shown are described using the NM_001122608.2 transcript reference sequence.

21 entries on 1 page. Showing entries 1 - 21.
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Effect     

Reported     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Classification method     

Clinical classification     

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.-42-3C>A r.spl? p.? - VUS g.11130136C>A g.11112016C>A HCCS(NM_005333.5):c.-42-3C>A - HCCS_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/., -?/. 3 - c.5G>A r.(?) p.(Gly2Asp) - benign, likely benign g.11130185G>A g.11112065G>A HCCS(NM_001122608.2):c.5G>A (p.(Gly2Asp)), HCCS(NM_005333.5):c.5G>A (p.G2D) - HCCS_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden, VKGL-NL_Rotterdam, VKGL-NL_AMC
-?/. 1 - c.69A>C r.(?) p.(Ser23=) - likely benign g.11130249A>C - HCCS(NM_005333.5):c.69A>C (p.S23=) - HCCS_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.83A>G r.(?) p.(His28Arg) - VUS g.11130263A>G g.11112143A>G HCCS(NM_005333.5):c.83A>G (p.H28R) - HCCS_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/. 1 - c.134C>T r.(?) p.(Thr45Ile) - likely benign g.11132988C>T g.11114868C>T HCCS(NM_005333.5):c.134C>T (p.T45I) - HCCS_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.157G>T r.(?) p.(Val53Leu) - VUS g.11133011G>T g.11114891G>T HCCS(NM_001122608.2):c.157G>T (p.(Val53Leu)) - HCCS_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+?/. 1 - c.175C>T r.(?) p.(Arg59Cys) - likely pathogenic g.11133029C>T g.11114909C>T - - HCCS_000015 - PubMed: Huang 2015 - - Germline - - - - - LOVD
-?/. 1 - c.177C>T r.(?) p.(Arg59=) - likely benign g.11133031C>T - HCCS(NM_005333.5):c.177C>T (p.R59=) - HCCS_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.189C>T r.(?) p.(Tyr63=) - likely benign g.11133043C>T g.11114923C>T HCCS(NM_005333.5):c.189C>T (p.Y63=) - HCCS_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/., ?/. 3 3 c.215C>T r.(?) p.(Ala72Val) - benign, VUS g.11133069C>T g.11114949C>T A72V - HCCS_000007 11 homozygous; Clinindb (India), 3 heterozygous; Clinindb (India), recurrent, found 6 times PubMed: Narang 2020, Journal: Narang 2020, PubMed: Tarpey 2009 - - Germline - 11/2794 individuals, 3/2794 individuals, 6/208 cases - - - Lucy Raymond, Mohammed Faruq
-/. 2 - c.216G>C r.(?) p.(Ala72=) - benign g.11133070G>C g.11114950G>C HCCS(NM_005333.5):c.216G>C (p.A72=) - HCCS_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_AMC
-?/. 1 - c.252+5T>G r.spl? p.? - likely benign g.11133111T>G g.11114991T>G HCCS(NM_005333.5):c.252+5T>G - HCCS_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.422A>G r.(?) p.(Asp141Gly) - VUS g.11136641A>G - HCCS(NM_005333.5):c.422A>G (p.D141G) - HCCS_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.474C>T r.(?) p.(Asn158=) - likely benign g.11136693C>T - HCCS(NM_005333.5):c.474C>T (p.N158=) - HCCS_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/., ?/. 2 - c.518C>T r.(?) p.(Ala173Val) - likely benign, VUS g.11136737C>T g.11118617C>T HCCS(NM_001122608.2):c.518C>T (p.(Ala173Val)), HCCS(NM_005333.5):c.518C>T (p.A173V) - HCCS_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden, VKGL-NL_Rotterdam
-?/. 1 - c.549C>A r.(?) p.(Ile183=) - likely benign g.11139054C>A - HCCS(NM_005333.5):c.549C>A (p.I183=) - HCCS_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.550C>T r.(?) p.(Arg184Trp) - VUS g.11139055C>T - HCCS(NM_005333.5):c.550C>T (p.R184W) - HCCS_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
+?/. 1 - c.572A>T r.(?) p.(Glu191Val) - likely pathogenic g.11139077A>T g.11120957A>T - - HCCS_000016 - PubMed: Huang 2015 - - Germline - - - - - LOVD
+/. 1 - c.612T>G r.(?) p.(Tyr204Ter) - pathogenic g.11139735T>G g.11121615T>G - - HCCS_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. 1 - c.697G>A r.(?) p.(Glu233Lys) - likely benign g.11139820G>A g.11121700G>A HCCS(NM_005333.5):c.697G>A (p.E233K) - HCCS_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.784G>A r.(?) p.(Ala262Thr) - VUS g.11139907G>A - HCCS(NM_005333.5):c.784G>A (p.A262T) - HCCS_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
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