Full data view for gene PGK1

Information The variants shown are described using the NM_000291.3 transcript reference sequence.

30 entries on 1 page. Showing entries 1 - 30.
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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.-44491944T>A - - Parent #1 - pathogenic (recessive) g.32867894T>A g.32849777T>A - - DMD_001854 - - - - Germline - - - 0 - DNA SEQ - - - - - - - - Germany - - 0 - - 1 Andreas Laner
-/. - c.-4C>T r.(?) p.(=) Unknown - benign g.77359834C>T g.78104337C>T PGK1(NM_000291.3):c.-4C>T - PGK1_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+?/. - c.77A>G r.(?) p.(Asn26Ser) Unknown - likely pathogenic g.77365375A>G g.78109878A>G - - PGK1_000037 combination of variants not reported PubMed: Topf 2020 - - Germline - 1/1001 cases - 0 - DNA SEQ, SEQ-NG - WES LGMD - PubMed: Topf 2020 analysis 1001 patients with unexplained limb-girdle weakness - - - - - 0 - - 1 Johan den Dunnen
?/. - c.183G>A r.(?) p.(Met61Ile) Parent #1 - VUS g.77369307G>A g.78113810G>A - - PGK1_000001 found once, nonrecurrent change PubMed: Tarpey 2009 - - Germline - 1/208 cases - 0 - DNA SEQ - - MRX;IDX 19377476-Pat? PubMed: Tarpey 2009 - M - - - - 0 for details contact Lucy Raymond (flr24 @ cam.ac.uk) - 1 Lucy Raymond
?/. - c.241G>T r.(?) p.(Val81Phe) Parent #1 - VUS g.77369365G>T g.78113868G>T - - PGK1_000002 recurrent, found 2 times PubMed: Tarpey 2009 - - Germline - 2/208 cases - 0 - DNA SEQ - - MRX;IDX 19377476-Pat? PubMed: Tarpey 2009 - M - - - - 0 for details contact Lucy Raymond (flr24 @ cam.ac.uk) - 2 Lucy Raymond
-?/. - c.356T>C r.(?) p.(Leu119Pro) Unknown - likely benign g.77369596T>C - PGK1(NM_000291.3):c.356T>C (p.L119P) - PGK1_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.392A>G r.(?) p.(Lys131Arg) Unknown - VUS g.77369632A>G - PGK1(NM_000291.3):c.392A>G (p.(Lys131Arg)) - PGK1_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.418G>A r.(?) p.(Val140Ile) Unknown - likely benign g.77372809G>A - PGK1(NM_000291.3):c.418G>A (p.V140I) - PGK1_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.441A>G r.(?) p.(Ile147Met) Unknown - VUS g.77372832A>G g.78117335A>G PGK1(NM_000291.3):c.441A>G (p.I147M) - PGK1_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.506C>T r.(?) p.(Ala169Val) Unknown - likely benign g.77372897C>T g.78117400C>T PGK1(NM_000291.3):c.506C>T (p.A169V) - PGK1_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.539A>G r.(?) p.(Asn180Ser) Unknown - likely benign g.77373565A>G g.78118068A>G PGK1(NM_000291.3):c.539A>G (p.(Asn180Ser)) - PGK1_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.674A>G r.(?) p.(Asn225Ser) Parent #1 - VUS g.77378364A>G g.78122867A>G - - PGK1_000003 found once, nonrecurrent change PubMed: Tarpey 2009 - - Germline - 1/208 cases - 0 - DNA SEQ - - MRX;IDX 19377476-Pat? PubMed: Tarpey 2009 - M - - - - 0 for details contact Lucy Raymond (flr24 @ cam.ac.uk) - 1 Lucy Raymond
+/. - c.758T>C r.(?) p.(Ile253Thr) Maternal (confirmed) ACMG pathogenic g.77378693T>C g.78123196T>C - - PGK1_000024 - PubMed: Trujillano 2017 - - Germline - - - 0 - DNA SEQ, SEQ-NG - - deficiency, phosphoglycerate kinase 1 - PubMed: Trujillano 2017 unaffected heterozygous carrier mother - - - - - 0 - - 1 Daniel Trujillano
?/. - c.758T>C r.(?) p.(Ile253Thr) Unknown - VUS g.77378693T>C g.78123196T>C - - PGK1_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.887C>T r.(?) p.(Ala296Val) Unknown - VUS g.77378822C>T g.78123325C>T PGK1(NM_000291.3):c.887C>T (p.(Ala296Val)) - PGK1_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.887C>T r.(?) p.(Ala296Val) Unknown - VUS g.77378822C>T - PGK1(NM_000291.3):c.887C>T (p.(Ala296Val)) - PGK1_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.914C>G r.(?) p.(Ser305Cys) Parent #1 - VUS g.77378849C>G g.78123352C>G - - PGK1_000004 found once, nonrecurrent change PubMed: Tarpey 2009 - - Germline - 1/208 cases - 0 - DNA SEQ - - MRX;IDX 19377476-Pat? PubMed: Tarpey 2009 - M - - - - 0 for details contact Lucy Raymond (flr24 @ cam.ac.uk) - 1 Lucy Raymond
?/. - c.936+236del r.(=) p.(=) Unknown - VUS g.77379107del g.78123610del - - PGK1_000021 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
?/. - c.936+251_936+252insC r.(=) p.(=) Unknown - VUS g.77379122_77379123insC g.78123625_78123626insC - - PGK1_000023 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
-/. - c.937-17dup r.(=) p.(=) Unknown - benign g.77380354dup g.78124857dup PGK1(NM_000291.3):c.937-17dupT - PGK1_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.937-17dup r.(=) p.(=) Unknown - benign g.77380354dup - PGK1(NM_000291.3):c.937-17dupT - PGK1_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1114+7G>A r.(=) p.(=) Unknown - likely benign g.77380555G>A - PGK1(NM_000291.3):c.1114+7G>A - PGK1_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1115-3C>T r.spl? p.? Unknown - VUS g.77380821C>T g.78125324C>T - - PGK1_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.1130C>T r.(?) p.(Ala377Val) Unknown - VUS g.77380839C>T g.78125342C>T - - PGK1_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.1139G>T r.(?) p.(Cys380Phe) Unknown - VUS g.77380848G>T - - - PGK1_000038 - PubMed: Xu 2015 - - Germline - 1/205 chromosomes - 0 - DNA SEQ-NG-S - - CHM RP229 PubMed: Li S 2014 2-generation family, 1 affected M - China - - 0 - - 1 David Baux
-?/. - c.1152C>T r.(?) p.(Asn384=) Unknown - likely benign g.77380861C>T g.78125364C>T PGK1(NM_000291.3):c.1152C>T (p.N384=) - PGK1_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1192G>A r.(?) p.(Ala398Thr) Unknown - VUS g.77380901G>A g.78125404G>A PGK1(NM_000291.3):c.1192G>A (p.A398T) - PGK1_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.1234G>A r.(?) p.(Asp412Asn) Unknown - likely benign g.77381307G>A - PGK1(NM_000291.3):c.1234G>A (p.D412N) - PGK1_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*443del r.(=) p.(=) Unknown - VUS g.77381770del g.78126273del - - PGK1_000022 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
-?/. - c.*5923G>C r.(=) p.(=) Unknown - likely benign g.77387250G>C g.78131753G>C TAF9B(NM_015975.4):c.613C>G (p.(Gln205Glu)) - TAF9B_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
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