Full data view for gene BCKDK

Information The variants shown are described using the NM_005881.2 transcript reference sequence.

12 entries on 1 page. Showing entries 1 - 12.
Legend   How to query  

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.-3936827_*765098dup - - Unknown - pathogenic g.27183151_31888684dup g.27171830_31877363dup - - CLN3_000010 mosaicism, copy number 3 in 0.33 cells PubMed: DDDS 2015, Journal: DDDS 2015 - - Somatic - - - - - DNA SEQ, SEQ-NG-I - - ? - PubMed: DDDS 2015, Journal: DDDS 2015 family, affected sibling(s) M - United Kingdom (Great Britain) - - - Decipher - 2 Johan den Dunnen
+?/. - c.-3019977_*3476414del r.0? p.0? Unknown - likely pathogenic g.28100001_34600000del g.28500001_35300000del CGH array, microdeletion in 16p11.2 - CRYM_000000 zygosity not written; probable breakpoints; pathogenic in literature; genes ANKS4B,CRYM,NPIPB3,SMG1P3,RRN3P3,MIR3680-1,MIR3680-2,SLC7A5P2,LOC101927814,METTL9,IGSF6,OTOA,OTOAP1,RRN3P1,NPIPB4,NPIPB5,UQCRC2,PDZD9,MOSMO,VWA3A,EEF2K,POLR3E,CDR2,MFSD13B,HS3ST2,USP31,SCNN1G,SCNN1B,COG7,GGA2,EARS2,UBFD1,NDUFAB1,PALB2,DCTN5,PLK1,ERN2,CHP2 PubMed: Ruberto 2020 - - Unknown ? - - - - DNA arrayCGH - targeted sequencing with 1 of 4 panels of OFTALMOgenics probes retinal disease 3 PubMed: Ruberto 2020 - ? - Italy - - - - - 1 LOVD
?/. - c.128C>T r.(?) p.(Ala43Val) Unknown - VUS g.31120672C>T - BCKDK(NM_005881.4):c.128C>T (p.A43V) - BCKDK_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.360dup r.(?) p.(Thr121HisfsTer7) Both (homozygous) - likely pathogenic (recessive) g.31121089dup g.31109768dup 360dupC - BCKDK_000009 - Journal: Paracha 2024 - - Germline yes - - - - DNA SEQ-NG, SEQ - WES NDD Fam8 Journal: Paracha 2024 4-generation family, 4 affected (3F, M), heterozygous carrier parents/relatives F;M yes Pakistan - - - - - 4 Muhammad Umair
+/? 6 c.520C>G r.[520c>g;521_543del] p.[Arg174Gly; Glu175*] Both (homozygous) - pathogenic g.31121622C>G g.31110301C>G - - BCKDK_000002 - - - - Germline yes - - - - DNA, RNA, protein PCR, RT-PCR, SEQ, SEQ-NG-I, Western - - autism - - - - - Afghanistan - - - - - 1 Alfonso Luis Oyarzábal Sanz
-?/. - c.556G>A r.(?) p.(Val186Ile) Unknown - likely benign g.31121734G>A g.31110413G>A BCKDK(NM_001122957.2):c.556G>A (p.V186I) - BCKDK_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.646_649del r.[(644_647del),spl] p.[(Asp216Leufs*65),?] Both (homozygous) - pathogenic (recessive) g.31122012_31122015del g.31110691_31110694del 644_647delCTGA - BCKDK_000005 - PubMed: Santos-Cortez 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - WES ID FamMCP102Pat3 PubMed: Santos-Cortez 2018 4-generation family, 2 affected (F, M), unaffected heterozygous carrier parents/relatives M yes Pakistan - - - - - 2 Johan den Dunnen
+/. - c.646_649del r.[(644_647del),spl] p.[(Asp216Leufs*65),?] Both (homozygous) - pathogenic (recessive) g.31122012_31122015del g.31110691_31110694del 644_647delCTGA - BCKDK_000005 - PubMed: Santos-Cortez 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - WES ID FamMCP102Pat4 PubMed: Santos-Cortez 2018 - F yes Pakistan - - - - - 1 Johan den Dunnen
+?/. - c.999_1001del r.(?) p.(Thr335del) Unknown - likely pathogenic g.31123253_31123255del - - - BCKDK_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/? 12 c.1166T>C r.1166u>c p.Leu389Pro Both (homozygous) - pathogenic g.31123513T>C g.31112192T>C - - BCKDK_000001 - - - - Germline yes - - - - DNA, RNA, protein MCA, PCR, RT-PCR, SEQ, Western - - autism - - - - no Spain - - - - - 1 Alfonso Luis Oyarzábal Sanz
?/. - c.1201C>T r.(?) p.(Arg401Cys) Unknown - VUS g.31123548C>T - BCKDK(NM_005881.4):c.1201C>T (p.R401C) - BCKDK_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1218G>A r.(?) p.(Arg406=) Unknown - likely benign g.31123565G>A - BCKDK(NM_005881.3):c.1218G>A (p.R406=) - BCKDK_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
Legend   How to query  


Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.