Full data view for gene MPV17

Information The variants shown are described using the NM_002437.4 transcript reference sequence.

27 entries on 1 page. Showing entries 1 - 27.
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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.-3835C>A r.(?) p.(=) Unknown - VUS g.27549748G>T g.27326881G>T GTF3C2(NM_001318909.1):c.2563C>A (p.P855T) - MPV17_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-3663C>T r.(?) p.(=) Unknown - likely benign g.27549576G>A g.27326709G>A GTF3C2(NM_001318909.1):c.2735C>T (p.S912F) - MPV17_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 2i_3 c.71-2_79delins(4) r.spl p.? Unknown - pathogenic g.27535968_27535978delins(4) - - - MPV17_000012 incomplete HGVS description, ins4 needs to be specified - - - Germline - - - 0 - DNA SEQ-NG-I - - MTDPS-6 - Ayman et al - - - - - - 0 - - 1 Hongzheng Dai
+/? 2i_8_ c.71-?_*420+?del r.? p.? Both (homozygous) - pathogenic g.(?_27532360)_(27535976_?)del g.27309492_27313109del exon 3-8 deletion - MPV17_000001 - Uusimaa et al. 2014, EJHG, 22, 182-191 - - Germline yes - - 0 - DNA MLPA, SEQ Blood - MTDPS-6 - Uusimaa 2014, EJHG, 22, 181-191 - - - ? (unknown) - - 0 - - 2 Carl Fratter
+?/. - c.122G>A r.(?) p.(Arg41Gln) Both (homozygous) - likely pathogenic g.27535925C>T g.27313058C>T - - MPV17_000015 - - - - Germline - - - 0 - DNA SEQ - - CMT - - - - - - - - 0 - - 1 Jan Senderek
+/. - c.122G>A r.(?) p.(Arg41Gln) Unknown - pathogenic g.27535925C>T - MPV17(NM_002437.4):c.122G>A (p.R41Q) - MPV17_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.148C>T r.(?) p.(Arg50Trp) Maternal (confirmed) ACMG pathogenic g.27535899G>A g.27313032G>A - - MPV17_000003 - PubMed: Trujillano 2017 - - Germline - - - 0 - DNA SEQ, SEQ-NG - - MTDPS-6 - PubMed: Trujillano 2017 unaffected heterozygous carrier mother - - - - - 0 - - 1 Daniel Trujillano
-?/. - c.164T>C r.(?) p.(Val55Ala) Unknown - likely benign g.27535883A>G g.27313016A>G MPV17(NM_002437.4):c.164T>C (p.(Val55Ala)) - MPV17_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.191C>G r.(?) p.(Pro64Arg) Unknown - likely pathogenic g.27535635G>C g.27312768G>C MPV17(NM_002437.4):c.191C>G (p.P64R) - MPV17_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. - c.206G>A r.206g>a p.(Trp69*) Maternal (confirmed) - pathogenic (recessive) g.27535620C>T g.27312753C>T - - MPV17_000021 - PubMed: Lee 2019 ClinVar-000863435.1 - Germline - - - 0 - DNA, RNA RT-PCR, SEQ, SEQ-NG blood, fibroblast WES ? Pat37 PubMed: Lee 2019 - - - United States - - 0 - - 1 Johan den Dunnen
+/. 4 c.275A>G r.(?) p.(Asp92Gly) Unknown - pathogenic g.27535551T>C g.27312684T>C - - MPV17_000011 - - - - Germline - - - 0 - DNA SEQ-NG-I - - MTDPS-6 - - - F yes - - 00y05m 0 - - 1 Hongzheng Dai
+?/. - c.278A>C r.(?) p.(Gln93Pro) Both (homozygous) - likely pathogenic (recessive) g.27535548T>G - - - MPV17_000023 - PubMed: Stalke 2018 - - Germline - - - 0 - DNA SEQ - - MTDPS Fam20PatLP168 PubMed: Stalke 2018 - - - Germany - - 0 - - 1 Johan den Dunnen
+/. - c.284dup r.(?) p.(Phe96Leufs*17) Parent #1 - pathogenic g.27535457dup g.27312590dup - - MPV17_000002 - - - - Germline - - - 0 - DNA SEQ - - ? - - - - - Germany - - 0 - - 1 Andreas Laner
+?/. - c.284dup r.(?) p.(Phe96Leufs*17) Paternal (confirmed) ACMG likely pathogenic g.27535457dup g.27312590dup - - MPV17_000002 - PubMed: Trujillano 2017 - - Germline - - - 0 - DNA SEQ, SEQ-NG - - MTDPS-6 - PubMed: Trujillano 2017 unaffected heterozygous carrier mother - - - - - 0 - - 1 Daniel Trujillano
+/. 5 c.284dup r.(?) p.(Phe96Leufs*17) Both (homozygous) - pathogenic g.27535457dup g.27312590dup - - MPV17_000002 - - - - Germline - - - 0 - DNA SEQ-NG-I - - MTDPS-6 - - - F yes - - - 0 - - 1 Hongzheng Dai
+/. 5 c.284G>A r.(?) p.(Gly95Asp) Both (homozygous) - pathogenic g.27535452C>T g.27312585C>T - - MPV17_000010 - - - - Germline - - - 0 - DNA SEQ-NG-I - - MTDPS-6 - - - F - - - - 0 - - 1 Hongzheng Dai
?/. - c.293C>T r.(?) p.(Pro98Leu) Both (homozygous) - VUS g.27535443G>A - - - MPV17_000022 - PubMed: Stalke 2018 - - Germline - - - 0 - DNA SEQ - - MTDPS Fam31PatLP147 PubMed: Stalke 2018 - - - Germany - - 0 - - 1 Johan den Dunnen
+/. 5 c.293del r.(?) p.(Pro98Argfs*4) Unknown - pathogenic g.27535446del g.27312579del 293delC - MPV17_000008 - - - - Germline - - - 0 - DNA SEQ-NG-I - - MTDPS-6 - Ayman et al - - - - - - 0 - - 1 Hongzheng Dai
+/. 5 c.297T>G r.(?) p.(Cys99Trp) Unknown - pathogenic g.27535439A>C g.27312572A>C - - MPV17_000007 - - - - Germline - - - 0 - DNA SEQ-NG-I - - MTDPS-6 - - - - - - - - 0 - - 1 Hongzheng Dai
-/. - c.375+49dup r.(=) p.(=) Unknown - benign g.27535313dup g.27312446dup MPV17(NM_002437.4):c.375+47_375+48insC - MPV17_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+?/. 5i c.376-9T>G r.(376_408del) p.(Asp126_Tyr136del) Both (homozygous) - likely pathogenic g.27535123A>C g.27312255A>C - - MPV17_000016 in-frame deletion of 11 amino acids due to exon skipping (evidence on transcript level) - - - Germline - - - 0 - DNA SEQ - - CMT - - - - - - - - 0 - - 1 Jan Senderek
+?/. - c.376-9T>G r.376_408del p.(=) Paternal (confirmed) - likely pathogenic (recessive) g.27535123A>C g.27312255A>C - - MPV17_000016 exon skipping PubMed: Lee 2019 ClinVar-000863436.1 - Germline - - - 0 - DNA, RNA RT-PCR, SEQ, SEQ-NG blood, fibroblast WES ? Pat37 PubMed: Lee 2019 - - - United States - - 0 - - 1 Johan den Dunnen
+/. 5i c.376-2A>C r.spl p.? Unknown - pathogenic g.27535116T>G g.27312248T>G - - MPV17_000006 - - - - Germline - - - 0 - DNA SEQ-NG-I - - MTDPS-6 - - - - - - - - 0 - - 1 Hongzheng Dai
+/. 5i c.376-1G>A r.spl p.? Unknown - pathogenic g.27535115C>T g.27312247C>T - - MPV17_000005 - - - - Germline - - - 0 - DNA SEQ-NG-I - - MTDPS-6 - Ayman et al - - - - - - 0 - - 1 Hongzheng Dai
+/. 7 c.461G>T r.spl? p.(Arg154Met) Unknown - pathogenic g.27534767C>A g.27311899C>A - - MPV17_000004 - - - - Germline - - - 0 - DNA SEQ-NG-I - - - - - - - - - - - - - - - -
-?/. - c.*3800G>A r.(=) p.(=) Unknown - likely benign g.27528980C>T g.27306112C>T TRIM54(NM_032546.3):c.992+10C>T - TRIM54_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.*4180dup r.(?) p.(=) Unknown - likely benign g.27528600dup g.27305732dup TRIM54(NM_032546.3):c.883_884insA (p.(Tyr295Ter)) - MPV17_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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