Full data view for gene HK1

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

35 entries on 1 page. Showing entries 1 - 35.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Allele     

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     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
+/. - c.-270G>C r.(?) p.(?) Both (homozygous) - pathogenic (recessive) g.71038467G>C g.69278711G>C g.9712G>C - HK1_000021 - PubMed: Dohrn 2017, Journal: Dohrn 2017 - - Germline - 1/612 cases - - - DNA SEQ, SEQ-NG - targeted multigene panel CMT 28902413-Pat72 PubMed: Dohrn 2017, Journal: Dohrn 2017 analysis 612 patients M - (Germany) - - - - - 1 Johan den Dunnen
+?/. - c.-270G>C r.(?) p.(=) Both (homozygous) - likely pathogenic (recessive) g.71038467G>C g.69278711G>C 19589622G>A - HK1_000021 homozygosity mapping, gene sequencing; not in 233 controls (Bulgaria); functional consequences not known PubMed: Hantke 2009 - rs397514654 Germline yes - - - - DNA SEQ - - HMSNR;CMT4G 19536174-Fam PubMed: Hantke 2009 multi-generation family F;M yes Bulgaria gypsy (Kalderas) - - - - 1 Johan den Dunnen
+?/. - c.-270G>C r.(?) p.(=) Parent #1 - likely pathogenic (recessive) g.71038467G>C g.69278711G>C - - HK1_000021 - PubMed: Hantke 2009 - - Germline - 5/790 control individuals - - - DNA SEQ - - Healthy/Control 19536174-con PubMed: Hantke 2009 control individuals F;M - Bulgaria gypsy - - - - 5 Johan den Dunnen
+/. - c.-270G>C r.(?) p.(=) Both (homozygous) - pathogenic (recessive) g.71038467G>C g.69278711G>C HK1 g.9712G>C - HK1_000021 - PubMed: Sevilla 2013 - rs397514654 Germline yes - - - - DNA SEQ - - CMT CMT-502 PubMed: Claramunt 2007, PubMed: Sevilla 2013 3-generation family, affected brother/sister F;M yes Spain gypsy - - - - 2 Johan den Dunnen
+/. - c.-270G>C r.(?) p.(=) Both (homozygous) - pathogenic (recessive) g.71038467G>C g.69278711G>C g.9712G>C - HK1_000021 - PubMed: Sevilla 2013 - - Germline - - - - - DNA SEQ - - CMT CMT-444 PubMed: Claramunt 2007, PubMed: Sevilla 2013 family, 1 affected F yes Spain gypsy - - - - 1 Johan den Dunnen
+?/. - c.-270G>C r.(?) p.(=) Both (homozygous) - likely pathogenic (!) g.71038467G>C g.69278711G>C NT_008583.16:g.19589622G>C g.9712G>C (c.-249-3818G>C) - HK1_000021 pathogenic mechanism and functional effects remain unknown (could involve disrupted translational regulation from Ter>Tyr variant in uORF (NM_001358263.1:c.-270G>C)) PubMed: Hantke 2009 - rs397514654 Germline yes - - - - DNA RT-PCR, SEQ - - CMT patients PubMed: Hantke 2009 analysis 34 HMSNR patients F;M - - - - - - - 34 Johan den Dunnen
+/. - c.-270G>C r.(?) p.(=) Both (homozygous) - pathogenic (recessive) g.71038467G>C g.69278711G>C g.69278711G>C - HK1_000021 - PubMed: Brozkova 2016 - rs397514654 Germline yes - - - - DNA SEQ - - CMT patients PubMed: Brozkova 2016 analysis 20 HMSNR patients from 16 families F;M - Czech Republic - - - - - 20 Johan den Dunnen
+/. - c.-270G>C r.(?) p.(=) Both (homozygous) - pathogenic (recessive) g.71038467G>C g.69278711G>C g.9712G>C - HK1_000021 - PubMed: Gabrikova 2016 - - Germline - - - - - DNA SEQ - - CMT Fam2PatIV1 PubMed: Gabrikova 2016 2-generation family, 1 affected, unaffected heterozygous carrier parents/relatives M - Slovakia (Slovak Republic) - - - - - 1 Johan den Dunnen
+/. - c.-270G>C r.(?) p.(=) Both (homozygous) - pathogenic (recessive) g.71038467G>C g.69278711G>C g.9712G>C - HK1_000021 - PubMed: Gabrikova 2016 - - Germline - - - - - DNA SEQ - - CMT Fam4PatII1 PubMed: Gabrikova 2016 2-generation family, 1 affected, unaffected heterozygous carrier daughter/son F - Slovakia (Slovak Republic) - - - - - 1 Johan den Dunnen
+/. - c.-270G>C r.(?) p.(?) Both (homozygous) - pathogenic (recessive) g.71038467G>C g.69278711G>C g.9712G>C - HK1_000021 - PubMed: Ceprian 2024 - - Germline - - - - - DNA SEQ - - CMT Pat1 PubMed: Ceprian 2024 analysis 25 patients from 9 unrelated families (gypsy) - - France gypsy - - - - 1 Johan den Dunnen
+/. - c.-270G>C r.(?) p.(?) Both (homozygous) - pathogenic (recessive) g.71038467G>C g.69278711G>C g.9712G>C - HK1_000021 - PubMed: Ceprian 2024 - - Germline - - - - - DNA SEQ - - CMT Pat2 PubMed: Ceprian 2024 analysis 25 patients from 9 unrelated families (gypsy) - - France gypsy - - - - 1 Johan den Dunnen
+/. - c.-270G>C r.(?) p.(?) Both (homozygous) - pathogenic (recessive) g.71038467G>C g.69278711G>C g.9712G>C - HK1_000021 - PubMed: Ceprian 2024 - - Germline - - - - - DNA SEQ - - CMT Pat3 PubMed: Ceprian 2024 analysis 25 patients from 9 unrelated families (gypsy) - - France gypsy - - - - 1 Johan den Dunnen
+/. - c.-270G>C r.(?) p.(?) Both (homozygous) - pathogenic (recessive) g.71038467G>C g.69278711G>C g.9712G>C - HK1_000021 - PubMed: Ceprian 2024 - - Germline - - - - - DNA SEQ - - CMT Pat4 PubMed: Ceprian 2024 analysis 25 patients from 9 unrelated families (gypsy) - - France gypsy - - - - 1 Johan den Dunnen
+/. - c.-270G>C r.(?) p.(?) Both (homozygous) - pathogenic (recessive) g.71038467G>C g.69278711G>C g.9712G>C - HK1_000021 - PubMed: Ceprian 2024 - - Germline - - - - - DNA SEQ - - CMT Pat5 PubMed: Ceprian 2024 analysis 25 patients from 9 unrelated families (gypsy) - - France gypsy - - - - 1 Johan den Dunnen
+/. - c.-270G>C r.(?) p.(?) Both (homozygous) - pathogenic (recessive) g.71038467G>C g.69278711G>C g.9712G>C - HK1_000021 - PubMed: Ceprian 2024 - - Germline - - - - - DNA SEQ - - CMT Pat6 PubMed: Ceprian 2024 analysis 25 patients from 9 unrelated families (gypsy) - - France gypsy - - - - 1 Johan den Dunnen
+/. - c.-270G>C r.(?) p.(?) Both (homozygous) - pathogenic (recessive) g.71038467G>C g.69278711G>C g.9712G>C - HK1_000021 - PubMed: Ceprian 2024 - - Germline - - - - - DNA SEQ - - CMT Pat7 PubMed: Ceprian 2024 analysis 25 patients from 9 unrelated families (gypsy) - - France gypsy - - - - 1 Johan den Dunnen
+/. - c.-270G>C r.(?) p.(?) Both (homozygous) - pathogenic (recessive) g.71038467G>C g.69278711G>C g.9712G>C - HK1_000021 - PubMed: Ceprian 2024 - - Germline - - - - - DNA SEQ - - CMT Pat8 PubMed: Ceprian 2024 analysis 25 patients from 9 unrelated families (gypsy) - - France gypsy - - - - 1 Johan den Dunnen
+/. - c.-270G>C r.(?) p.(?) Both (homozygous) - pathogenic (recessive) g.71038467G>C g.69278711G>C g.9712G>C - HK1_000021 - PubMed: Ceprian 2024 - - Germline - - - - - DNA SEQ - - CMT Pat9 PubMed: Ceprian 2024 analysis 25 patients from 9 unrelated families (gypsy) - - France gypsy - - - - 1 Johan den Dunnen
+/. - c.-270G>C r.(?) p.(?) Both (homozygous) - pathogenic (recessive) g.71038467G>C g.69278711G>C g.9712G>C - HK1_000021 - PubMed: Ceprian 2024 - - Germline - - - - - DNA SEQ - - CMT Pat10 PubMed: Ceprian 2024 analysis 25 patients from 9 unrelated families (gypsy) - - France gypsy - - - - 1 Johan den Dunnen
+/. - c.-270G>C r.(?) p.(?) Both (homozygous) - pathogenic (recessive) g.71038467G>C g.69278711G>C g.9712G>C - HK1_000021 - PubMed: Ceprian 2024 - - Germline - - - - - DNA SEQ - - CMT Pat11 PubMed: Ceprian 2024 analysis 25 patients from 9 unrelated families (gypsy) - - France gypsy - - - - 1 Johan den Dunnen
+/. - c.-270G>C r.(?) p.(?) Both (homozygous) - pathogenic (recessive) g.71038467G>C g.69278711G>C g.9712G>C - HK1_000021 - PubMed: Ceprian 2024 - - Germline - - - - - DNA SEQ - - CMT Pat12 PubMed: Ceprian 2024 analysis 25 patients from 9 unrelated families (gypsy) - - France gypsy - - - - 1 Johan den Dunnen
+/. - c.-270G>C r.(?) p.(?) Both (homozygous) - pathogenic (recessive) g.71038467G>C g.69278711G>C g.9712G>C - HK1_000021 - PubMed: Ceprian 2024 - - Germline - - - - - DNA SEQ - - CMT Pat13 PubMed: Ceprian 2024 analysis 25 patients from 9 unrelated families (gypsy) - - France gypsy - - - - 1 Johan den Dunnen
+/. - c.-270G>C r.(?) p.(?) Both (homozygous) - pathogenic (recessive) g.71038467G>C g.69278711G>C g.9712G>C - HK1_000021 - PubMed: Ceprian 2024 - - Germline - - - - - DNA SEQ - - CMT Pat14 PubMed: Ceprian 2024 analysis 25 patients from 9 unrelated families (gypsy) - - France gypsy - - - - 1 Johan den Dunnen
+/. - c.-270G>C r.(?) p.(?) Both (homozygous) - pathogenic (recessive) g.71038467G>C g.69278711G>C g.9712G>C - HK1_000021 - PubMed: Ceprian 2024 - - Germline - - - - - DNA SEQ - - CMT Pat15 PubMed: Ceprian 2024 analysis 25 patients from 9 unrelated families (gypsy) - - France gypsy - - - - 1 Johan den Dunnen
+/. - c.-270G>C r.(?) p.(?) Both (homozygous) - pathogenic (recessive) g.71038467G>C g.69278711G>C g.9712G>C - HK1_000021 - PubMed: Ceprian 2024 - - Germline - - - - - DNA SEQ - - CMT Pat16 PubMed: Ceprian 2024 analysis 25 patients from 9 unrelated families (gypsy) - - France gypsy - - - - 1 Johan den Dunnen
+/. - c.-270G>C r.(?) p.(?) Both (homozygous) - pathogenic (recessive) g.71038467G>C g.69278711G>C g.9712G>C - HK1_000021 - PubMed: Ceprian 2024 - - Germline - - - - - DNA SEQ - - CMT Pat17 PubMed: Ceprian 2024 analysis 25 patients from 9 unrelated families (gypsy) - - France gypsy - - - - 1 Johan den Dunnen
+/. - c.-270G>C r.(?) p.(?) Both (homozygous) - pathogenic (recessive) g.71038467G>C g.69278711G>C g.9712G>C - HK1_000021 - PubMed: Ceprian 2024 - - Germline - - - - - DNA SEQ - - CMT Pat18 PubMed: Ceprian 2024 analysis 25 patients from 9 unrelated families (gypsy) - - France gypsy - - - - 1 Johan den Dunnen
+/. - c.-270G>C r.(?) p.(?) Both (homozygous) - pathogenic (recessive) g.71038467G>C g.69278711G>C g.9712G>C - HK1_000021 - PubMed: Ceprian 2024 - - Germline - - - - - DNA SEQ - - CMT Pat19 PubMed: Ceprian 2024 analysis 25 patients from 9 unrelated families (gypsy) - - France gypsy - - - - 1 Johan den Dunnen
+/. - c.-270G>C r.(?) p.(?) Both (homozygous) - pathogenic (recessive) g.71038467G>C g.69278711G>C g.9712G>C - HK1_000021 - PubMed: Ceprian 2024 - - Germline - - - - - DNA SEQ - - CMT Pat20 PubMed: Ceprian 2024 analysis 25 patients from 9 unrelated families (gypsy) - - France gypsy - - - - 1 Johan den Dunnen
+/. - c.-270G>C r.(?) p.(?) Both (homozygous) - pathogenic (recessive) g.71038467G>C g.69278711G>C g.9712G>C - HK1_000021 - PubMed: Ceprian 2024 - - Germline - - - - - DNA SEQ - - CMT Pat21 PubMed: Ceprian 2024 analysis 25 patients from 9 unrelated families (gypsy) - - France gypsy - - - - 1 Johan den Dunnen
+/. - c.-270G>C r.(?) p.(?) Both (homozygous) - pathogenic (recessive) g.71038467G>C g.69278711G>C g.9712G>C - HK1_000021 - PubMed: Ceprian 2024 - - Germline - - - - - DNA SEQ - - CMT Pat22 PubMed: Ceprian 2024 analysis 25 patients from 9 unrelated families (gypsy) - - France gypsy - - - - 1 Johan den Dunnen
+/. - c.-270G>C r.(?) p.(?) Both (homozygous) - pathogenic (recessive) g.71038467G>C g.69278711G>C g.9712G>C - HK1_000021 - PubMed: Ceprian 2024 - - Germline - - - - - DNA SEQ - - CMT Pat23 PubMed: Ceprian 2024 analysis 25 patients from 9 unrelated families (gypsy) - - France gypsy - - - - 1 Johan den Dunnen
+/. - c.-270G>C r.(?) p.(?) Both (homozygous) - pathogenic (recessive) g.71038467G>C g.69278711G>C g.9712G>C - HK1_000021 - PubMed: Ceprian 2024 - - Germline - - - - - DNA SEQ - - CMT Pat24 PubMed: Ceprian 2024 analysis 25 patients from 9 unrelated families (gypsy) - - France gypsy - - - - 1 Johan den Dunnen
+/. - c.-270G>C r.(?) p.(?) Both (homozygous) - pathogenic (recessive) g.71038467G>C g.69278711G>C g.9712G>C - HK1_000021 - PubMed: Ceprian 2024 - - Germline - - - - - DNA SEQ - - CMT Pat25 PubMed: Ceprian 2024 analysis 25 patients from 9 unrelated families (gypsy) - - France gypsy - - - - 1 Johan den Dunnen
+?/. - c.-270G>C r.(?) p.(?) Unknown - NA g.71038467G>C g.69278711G>C - - HK1_000021 in vitro expression analysis suggests inability to bind to VDAC, inducing a sustained release of mitochondrial calcium in the cytoplasm, leaving mSC prone to demyelination, which may explain the demyelinating peripheral neuropathy affects CMT4G patients PubMed: Ceprian 2024 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
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