Full data view for gene BCHE

Information The variants shown are described using the NM_000055.2 transcript reference sequence.

20 entries on 1 page. Showing entries 1 - 20.
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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.166T>A r.(?) p.(Phe56Ile) Unknown - VUS g.165548656A>T - - - BCHE_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.293A>G r.(?) p.(Asp98Gly) Unknown - VUS g.165548529T>C g.165830741T>C BCHE(NM_000055.4):c.293A>G (p.D98G) - BCHE_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.293A>G r.(?) p.(Asp98Gly) Unknown - pathogenic g.165548529T>C g.165830741T>C BCHE(NM_000055.4):c.293A>G (p.D98G) - BCHE_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.293A>G r.(?) p.(Asp98Gly) Parent #1 - likely pathogenic g.165548529T>C g.165830741T>C - - BCHE_000004 9 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs1799807 Germline - 9/2792 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 9 Mohammed Faruq
?/. - c.428G>A r.(?) p.(Gly143Asp) Unknown - VUS g.165548394C>T g.165830606C>T - - BCHE_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.435_436insG r.(?) p.(Phe146Valfs*12) Unknown - likely pathogenic g.165548386_165548387insC - BCHE(NM_000055.3):c.435_436insG (p.F146Vfs*12) - BCHE_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.435_436insG r.(?) p.(Phe146Valfs*12) Unknown - pathogenic g.165548386_165548387insC - BCHE(NM_000055.3):c.435_436insG (p.F146Vfs*12) - BCHE_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.435_436insG r.(?) p.(Phe146ValfsTer12) Unknown ACMG pathogenic g.165548386_165548387insC g.165830598_165830599insC - - BCHE_000012 ACMG PVS1, PM3, PM2, PP5; not in 142 controls PubMed: Horbacz 2025 - - Germline/De novo (untested) - - - - - DNA SEQ, SEQ-NG - WES scoliosis Pat33 PubMed: Horbacz 2025 patient, affected mother F - Poland - - - - - 1 Johan den Dunnen
?/. - c.616G>C r.(?) p.(Val206Leu) Unknown - VUS g.165548206C>G - - - BCHE_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.635C>T r.(?) p.(Ala212Val) Unknown - VUS g.165548187G>A - - - BCHE_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.849G>C r.(?) p.(Glu283Asp) Unknown - VUS g.165547973C>G - - - BCHE_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.1004T>C r.(?) p.(Leu335Pro) Parent #1 - likely pathogenic g.165547818A>G g.165830030A>G - - BCHE_000008 15 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs104893684 Germline - 15/2794 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 15 Mohammed Faruq
?/. - c.1177G>C r.(?) p.(Gly393Arg) Parent #1 - VUS g.165547645C>G g.165829857C>G - - BCHE_000007 conflicting interpretations of pathogenicity; 1 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs115129687 Germline - 1/2790 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 1 Mohammed Faruq
?/. - c.1268A>G r.(?) p.(Asp423Gly) Unknown - VUS g.165547554T>C - - - BCHE_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1354C>T r.(?) p.(Arg452*) Unknown - pathogenic g.165547468G>A - - - BCHE_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1685-14T>C r.(=) p.(=) Unknown - benign g.165491308A>G g.165773520A>G - - BCHE_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1699G>A r.(?) p.(Ala567Thr) Unknown - VUS g.165491280C>T g.165773492C>T - - BCHE_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1771G>A r.(?) p.(Asp591Asn) Unknown - likely benign g.165491208C>T - BCHE(NM_000055.2):c.1771G>A (p.(Asp591Asn)) - BCHE_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1781G>T r.(?) p.(Ser594Ile) Both (homozygous) - VUS g.165491198C>A - NM_000055.3:c.1781G>T - BCHE_000016 - PubMed: Bertoli-Avella 2022 - rs142859898 Germline - - - - - DNA SEQ, SEQ-NG - WES CF Fam3PatIV1 PubMed: Bertoli-Avella 2022 4-generation family, 3 affected (3M), unaffected heterozygous carrier parents/relatives M yes Iraq - - - - - 3 Johan den Dunnen
?/. - c.1802del r.(?) p.(Gly601Valfs*4) Unknown - VUS g.165491179del - BCHE(NM_000055.3):c.1802delG (p.G601Vfs*4) - BCHE_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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