Full data view for gene ALG9

Information The variants shown are described using the NM_024740.2 transcript reference sequence.

31 entries on 1 page. Showing entries 1 - 31.
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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.-4020A>G r.(?) p.(=) Unknown - likely benign g.111746226T>C g.111875502T>C FDXACB1(NM_138378.2):c.1295A>G (p.K432R) - ALG9_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.59_61= r.(=) p.(Thr20=) Unknown - benign g.111742146del g.111871422del ALG9(NM_024740.2):c.60delC (p.A21Pfs*55) - ALG9_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.59_61= r.(=) p.(Thr20=) Unknown - benign g.111742146del - ALG9(NM_024740.2):c.60delC (p.A21Pfs*55) - ALG9_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.125G>C r.(?) p.(Arg42Pro) Unknown - VUS g.111742081C>G - ALG9(NM_024740.2):c.125G>C (p.R42P) - ALG9_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.132-14_132-13del r.(=) p.(=) Unknown - likely benign g.111741126_111741127del g.111870403_111870404del ALG9(NM_001077691.2):c.-382-14_-382-13delTT - ALG9_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.132-13del r.(=) p.(=) Unknown - benign g.111741127del - ALG9(NM_001077691.2):c.-382-13delT - ALG9_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.352G>A r.(?) p.(Val118Ile) Parent #1 - VUS g.111739379C>T - - - ALG9_000016 Variant Error [EMISMATCH/EREF]: This transcript variant does not match the reference sequence. Please fix this entry and then remove this message. PubMed: Almomani 2011 {dbSNP:10502151} - - Germline - - - - - DNA SEQ-NG, SEQ, arraySNP, PCR - - HD - PubMed: Almomani 2011 - - - - - - 0 - - 1 Global Variome, with Curator vacancy
?/. - c.422T>C r.(?) p.(Phe141Ser) Unknown - VUS g.111735958A>G g.111865235A>G ALG9(NM_024740.2):c.422T>C (p.F141S) - ALG9_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.566-3C>T r.spl? p.? Unknown - likely benign g.111728463G>A g.111857740G>A ALG9(NM_001077691.1):c.53-3C>T - ALG9_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.764C>T r.(?) p.(Ser255Leu) Unknown - likely benign g.111724397G>A - ALG9(NM_024740.2):c.764C>T (p.S255L) - ALG9_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.790-4T>C r.spl? p.? Unknown - likely benign g.111724212A>G - ALG9(NM_001352422.1):c.202-4T>C - ALG9_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.852T>C r.(?) p.(Ile284=) Unknown - likely benign g.111724146A>G g.111853423A>G ALG9(NM_024740.2):c.852T>C (p.I284=) - ALG9_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/+ 8 c.860A>G r.(?) p.(Tyr287Cys) Both (homozygous) - pathogenic g.111724138T>C g.111853415T>C - - ALG9_000001 - - - - Unknown - - - 0 - DNA SEQ - - CDG1L - - - ? - Canada - - 0 - - 1 Gert Matthijs
-/. - c.865G>A r.(?) p.(Val289Ile) Unknown - benign g.111724133C>T g.111853410C>T ALG9(NM_001077691.2):c.352G>A (p.V118I) - ALG9_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.945T>C r.(?) p.(Asn315=) Unknown - likely benign g.111715397A>G - ALG9(NM_001352422.1):c.357T>C (p.N119=) - ALG9_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.967C>T r.(?) p.(Leu323=) Unknown - VUS g.111715375G>A - ALG9(NM_001352413.1):c.454C>T (p.Q152*) - ALG9_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1261G>A r.(?) p.(Ala421Thr) Unknown - VUS g.111709036C>T - - - ALG9_000021 - PubMed: Marcogliese 2018 - - Germline - - - 0 - DNA SEQ, SEQ-NG - - NDD, VMD Pat4 PubMed: Marcogliese 2018 2-generation family, 1 affected, unaffected parents F - - - - 0 - - 1 Johan den Dunnen
?/. - c.1304G>A r.(?) p.(Arg435His) Unknown - VUS g.111708992C>T g.111838269C>T ALG9(NM_001077691.2):c.791G>A (p.R264H) - ALG9_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1320C>T r.(?) p.(Phe440=) Unknown - likely benign g.111708976G>A - ALG9(NM_001077690.1):c.1300C>T (p.R434*) - ALG9_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1325-9C>G r.(=) p.(=) Unknown - likely benign g.111708347G>C - ALG9(NM_001352422.1):c.716-9C>G - ALG9_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1332C>T r.(?) p.(His444=) Unknown - benign g.111708331G>A g.111837608G>A ALG9(NM_001077690.1):c.1312C>T (p.R438W) - ALG9_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1473-14T>C r.(=) p.(=) Unknown - likely benign g.111707031A>G g.111836308A>G ALG9(NM_001077691.2):c.960-14T>C - ALG9_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.1489A>G r.(?) p.(Ile497Val) Unknown - likely benign g.111707001T>C - ALG9(NM_001352422.1):c.880A>G (p.I294V) - ALG9_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1500G>A r.(?) p.(Glu500=) Unknown - likely benign g.111706990C>T - ALG9(NM_001077691.1):c.987G>A (p.E329=) - ALG9_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1538C>T r.(?) p.(Pro513Leu) Unknown - likely benign g.111706952G>A g.111836229G>A ALG9(NM_001077690.1):c.1518C>T (p.(=)), ALG9(NM_001077691.1):c.1025C>T (p.P342L) - ALG9_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1538C>T r.(?) p.(Pro513Leu) Unknown - likely benign g.111706952G>A g.111836229G>A ALG9(NM_001077690.1):c.1518C>T (p.(=)), ALG9(NM_001077691.1):c.1025C>T (p.P342L) - ALG9_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1567A>G r.(?) p.(Met523Val) Unknown - VUS g.111706923T>C - ALG9(NM_001352422.1):c.958A>G (p.M320V) - ALG9_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1588G>A r.(?) p.(Glu530Lys) Unknown - VUS g.111706902C>T g.111836179C>T - - ALG9_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.1605T>G - p.? Parent #1 - likely benign g.111680496A>C g.111809772A>C - - ALG9_000020 14 heterozygous, no homozygous; Clinindb (India) Variant Error [EMISMATCH]: This variant seems to mismatch; the genomic and the transcript variant seems to not belong together. Please fix this entry and then remove this message. PubMed: Narang 2020, Journal: Narang 2020 - rs12575909 Germline - 14/2794 individuals - 0 - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - 14 Mohammed Faruq
?/. - c.1760A>G r.(?) p.(Tyr587Cys) Unknown - VUS g.111657218T>C g.111786494T>C ALG9(NM_001077690.1):c.1740A>G (p.(=)) - ALG9_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1807A>G r.(?) p.(Ile603Val) Unknown - likely benign g.111657171T>C - ALG9(NM_001352422.1):c.1198A>G (p.I400V) - ALG9_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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