Full data view for gene PGM1

Euroglycanet logoCongenital Disorders of Glycosylation (CDG)
Some variants in this database are copied from the CDG database at the Euroglycanet site.
Information The variants shown are described using the NM_002633.2 transcript reference sequence.

28 entries on 1 page. Showing entries 1 - 28.
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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.107C>A r.(?) p.(Ala36Glu) Unknown - VUS g.64059266C>A - PGM1(NM_002633.3):c.107C>A (p.(Ala36Glu)) - PGM1_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.227G>C r.(?) p.(Arg76Pro) Unknown - VUS g.64059386G>C - PGM1(NM_002633.3):c.227G>C (p.(Arg76Pro)) - PGM1_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.247-5880_247-5877del r.(=) p.(=) Unknown - VUS g.64089216_64089219del - PGM1(NM_001172818.1):c.83_86del (p.(Pro29ThrfsTer36)) - PGM1_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.247-5810G>A r.(=) p.(=) Unknown - likely benign g.64089286G>A - PGM1(NM_001172818.1):c.155G>A (p.C52Y) - PGM1_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.247-5664G>A r.(=) p.(=) Unknown - likely benign g.64089432G>A g.63623761G>A PGM1(NM_001172818.1):c.300+1G>A (p.?) - PGM1_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.247-5664G>A r.(=) p.(=) Unknown - likely benign g.64089432G>A g.63623761G>A PGM1(NM_001172818.1):c.300+1G>A (p.?) - PGM1_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.247-5664G>A r.(=) p.(=) Parent #1 - likely benign g.64089432G>A g.63623761G>A - - PGM1_000001 21 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs77043134 Germline - 21/2795 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 21 Mohammed Faruq
?/. - c.253C>T r.(?) p.(Arg85Cys) Unknown - VUS g.64095102C>T g.63629431C>T - - PGM1_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.262A>G r.(?) p.(Ile88Val) Unknown - benign g.64095111A>G g.63629440A>G PGM1(NM_001172818.1):c.316A>G (p.I106V) - PGM1_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.262A>G r.(?) p.(Ile88Val) Unknown - benign g.64095111A>G g.63629440A>G PGM1(NM_001172818.1):c.316A>G (p.I106V) - PGM1_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.365G>A r.(?) p.(Gly122Asp) Unknown - VUS g.64095214G>A g.63629543G>A - - PGM1_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.649C>T r.(?) p.(Arg217*) Unknown - pathogenic g.64097420C>T - PGM1(NM_001172818.1):c.703C>T (p.R235*) - PGM1_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.661C>T r.(?) p.(Arg221Cys) Unknown - benign g.64097432C>T g.63631761C>T PGM1(NM_001172818.1):c.715C>T (p.R239C) - PGM1_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.661C>T r.(?) p.(Arg221Cys) Unknown - benign g.64097432C>T g.63631761C>T PGM1(NM_001172818.1):c.715C>T (p.R239C) - PGM1_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.689G>A r.(?) p.(Gly230Glu) Unknown - VUS g.64100506G>A g.63634835G>A PGM1(NM_001172818.1):c.743G>A (p.(Gly248Glu)) - PGM1_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.986G>A r.(?) p.(Arg329His) Unknown - likely benign g.64102017G>A g.63636346G>A PGM1(NM_001172818.1):c.1040G>A (p.(Arg347His)) - PGM1_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.988G>A r.(?) p.(Gly330Ser) Unknown - VUS g.64102019G>A - PGM1(NM_002633.3):c.988G>A (p.(Gly330Ser)) - PGM1_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.988G>C r.(?) p.(Gly330Arg) Unknown - pathogenic g.64102019G>C - PGM1(NM_002633.3):c.988G>C (p.(Gly330Arg)) - PGM1_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 6 c.1014T>A r.(?) p.(Ser338Arg) Both (homozygous) - likely pathogenic (recessive) g.64102045T>A g.63636374T>A - - PGM1_000004 - - - - Germline yes - - - - RNA, protein IEF, SEQ Fibroblasts - CDG1T - - 2-generation family, 1 affected, unaffected heterozygous carrier parents M no - - - - - - 1 Silvia Radenkovic
+?/. - c.1108A>T r.(?) p.(Lys370*) Both (homozygous) ACMG likely pathogenic g.64104435A>T g.63638764A>T - - PGM1_000019 - - - - Germline - - - - - DNA SEQ-NG-S - - ? - - - F - - - - - - - 1 Andreas Laner
?/. - c.1137C>T r.(?) p.(=) Unknown - VUS g.64104464C>T - PGM1(NM_002633.3):c.1137C>T (p.(Phe379=)) - PGM1_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1432G>A r.(?) p.(Asp478Asn) Unknown - VUS g.64117491G>A - PGM1(NM_002633.3):c.1432G>A (p.(Asp478Asn)) - PGM1_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1543C>T r.(?) p.(Arg515Trp) Unknown - VUS g.64120081C>T g.63654410C>T - - PGM1_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.1544G>A r.(?) p.(Arg515Gln) Both (homozygous) - likely pathogenic (recessive) g.64120082G>A g.63654411G>A - - PGM1_000005 - - - rs771498278 Germline yes - - - - RNA, protein IEF, SEQ Fibroblasts WES CDG1T - - family, multiple individuals affected, unaffected heterozygous carrier parents M yes - - - - - - 3 Silvia Radenkovic
-?/. - c.1599+6G>T r.(=) p.(=) Unknown - likely benign g.64120143G>T - PGM1(NM_002633.3):c.1599+6G>T - PGM1_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1658C>T r.(?) p.(Thr553Met) Unknown - VUS g.64125315C>T g.63659644C>T - - PGM1_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*37G>A r.(=) p.(=) Parent #1 - likely benign g.64125383G>A g.63659712G>A - - PGM1_000024 67 heterozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs61765314 Germline - 67/2795 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 67 Mohammed Faruq
-?/. - c.*37G>A r.(=) p.(=) Both (homozygous) - likely benign g.64125383G>A g.63659712G>A - - PGM1_000024 1 homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs61765314 Germline - 1/2795 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 1 Mohammed Faruq
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