Unique variants in the PHGDH gene

Information The variants shown are described using the NM_006623.3 transcript reference sequence.

32 entries on 1 page. Showing entries 1 - 32.
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Effect     

Reported     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

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     

Owner     
-/. 1 - c.-140A>G r.(?) p.(=) - benign g.120254506A>G g.119711883A>G PHGDH(NM_006623.4):c.-140A>G - PHGDH_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-/. 1 - c.-101G>C r.(?) p.(=) - benign g.120254545G>C g.119711922G>C PHGDH(NM_006623.4):c.-101G>C - PHGDH_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
+/. 1 2 c.160C>T r.(?) p.(Arg54Cys) - pathogenic (recessive) g.120263814C>T g.119721191C>T - - PHGDH_000021 - - - - Germline - - - - - Fatima Abdelfattah
?/. 1 - c.161G>A r.(?) p.(Arg54His) - VUS g.120263815G>A - PHGDH(NM_006623.3):c.161G>A (p.R54H) - PHGDH_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+?/. 1 - c.271_274del r.(?) p.(Lys91Alafs*5) - likely pathogenic g.120263925_120263928del - PHGDH(NM_006623.3):c.271_274delAAGG (p.K91Afs*5) - PHGDH_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+?/. 1 2i c.290+2T>C r.spl p.? ACMG likely pathogenic g.120263946T>C g.119721323T>C - - PHGDH_000012 - PubMed: Tumienė 2018 - - Germline - - - - - Johan den Dunnen
-?/. 1 - c.291-18C>A r.(=) p.(=) - likely benign g.120265981C>A - PHGDH(NM_006623.4):c.291-18C>A - PHGDH_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. 1 - c.296C>G r.(?) p.(Pro99Arg) - likely benign g.120266004C>G - PHGDH(NM_006623.4):c.296C>G (p.P99R) - PHGDH_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
+?/. 1 4 c.374C>T r.(?) p.(Thr125Met) ACMG likely pathogenic g.120269491C>T g.119726868C>T - - PHGDH_000013 - PubMed: Tumienė 2018 - - Germline - - - - - Johan den Dunnen
?/. 1 - c.403C>T r.(?) p.(Arg135Trp) - VUS g.120269520C>T g.119726897C>T - - PHGDH_000019 1 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs267606949 Germline - 1/2795 individuals - - - Mohammed Faruq
+?/. 2 5 c.418G>A r.(?) p.(Gly140Arg) - likely pathogenic g.120269633G>A g.119727010G>A - - PHGDH_000001 - PubMed: Shaheen 2014 - - Germline yes - - - - Marianne Vos (LOVD-team)
+/., +?/. 2 5 c.488G>A r.(?) p.(Arg163Gln) - likely pathogenic, pathogenic (recessive) g.120269703G>A g.119727080G>A - - PHGDH_000002 - PubMed: Shaheen 2014 - - Germline yes - - - - Marianne Vos (LOVD-team), Fatima Abdelfattah
-?/. 1 - c.549G>A r.(?) p.(Ser183=) - likely benign g.120277295G>A - PHGDH(NM_006623.3):c.549G>A (p.S183=) - PHGDH_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. 1 - c.595C>G r.(?) p.(Leu199Val) - benign g.120277341C>G g.119734718C>G PHGDH(NM_006623.3):c.595C>G (p.L199V) - PHGDH_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. 1 - c.624T>C r.(?) p.(Pro208=) - benign g.120277370T>C g.119734747T>C PHGDH(NM_006623.3):c.624T>C (p.P208=) - PHGDH_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+?/., ?/. 2 6 c.638C>T r.(?) p.(Thr213Met) - pathogenic (recessive), VUS g.120277384C>T g.119734761C>T PHGDH(NM_006623.3):c.638C>T (p.(Thr213Met)) - PHGDH_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record, Germline - - - - - VKGL-NL_Leiden, Fatima Abdelfattah
+?/. 1 7 c.704C>T r.(?) p.(Ala235Val) - pathogenic (recessive) g.120277978C>T g.119735355C>T - - PHGDH_000020 - - - - Germline - - - - - Fatima Abdelfattah
+?/. 1 - c.706C>T r.(?) p.(Arg236Cys) - likely pathogenic g.120277980C>T g.119735357C>T PHGDH(NM_006623.4):c.706C>T (p.R236C) - PHGDH_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
?/. 1 - c.739C>T r.(?) p.(Arg247Trp) - VUS g.120278013C>T - PHGDH(NM_006623.4):c.739C>T (p.R247W) - PHGDH_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
?/. 1 - c.792+6T>C r.(=) p.(=) - VUS g.120278072T>C g.119735449T>C PHGDH(NM_006623.4):c.792+6T>C - PHGDH_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. 1 - c.792+6T>G r.(=) p.(=) - likely benign g.120278072T>G g.119735449T>G PHGDH(NM_006623.3):c.792+6T>G (p.(=)) - PHGDH_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. 1 - c.798G>T r.(?) p.(Pro266=) - likely benign g.120279742G>T g.119737119G>T PHGDH(NM_006623.4):c.798G>T (p.P266=) - PHGDH_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. 1 - c.946-19G>A r.(=) p.(=) - likely benign g.120282990G>A - PHGDH(NM_006623.4):c.946-19G>A - PHGDH_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
+/. 1 - c.1117G>A r.(?) p.(Ala373Thr) - pathogenic g.120284428G>A g.119741805G>A PHGDH(NM_006623.4):c.1117G>A (p.A373T) - PHGDH_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
+/. 1 - c.1129G>A r.(?) p.(Gly377Ser) - pathogenic g.120284440G>A g.119741817G>A PHGDH(NM_006623.4):c.1129G>A (p.G377S) - PHGDH_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. 1 - c.1158G>T r.(?) p.(Ala386=) - likely benign g.120284469G>T g.119741846G>T PHGDH(NM_006623.4):c.1158G>T (p.A386=) - PHGDH_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
+?/. 1 - c.1169T>A r.(?) p.(Leu390*) - likely pathogenic g.120284480T>A - PHGDH(NM_006623.3):c.1169T>A (p.(Leu390*)) - PHGDH_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+?/. 1 - c.1286G>T r.(?) p.(Gly429Val) - likely pathogenic g.120285506G>T g.119742883G>T PHGDH c.1286G>T, (p.Gly429Val) - PHGDH_000031 homozygous PubMed: Alabdullatif 2017 - - Germline yes - - - - LOVD
-/. 2 - c.1326G>A r.(?) p.(Thr442=) - benign g.120285546G>A g.119742923G>A PHGDH(NM_006623.4):c.1326G>A (p.T442=) - PHGDH_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen, VKGL-NL_Utrecht
-?/. 1 - c.1338G>C r.(?) p.(Gln446His) - likely benign g.120285558G>C - PHGDH(NM_006623.3):c.1338G>C (p.Q446H) - PHGDH_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.1471C>T r.(?) p.(Arg491Trp) - VUS g.120286532C>T - PHGDH(NM_006623.3):c.1471C>T (p.R491W) - HMGCS2_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.1559C>A r.(?) p.(Ala520Glu) - likely benign g.120286620C>A g.119743997C>A PHGDH(NM_006623.4):c.1559C>A (p.A520E) - PHGDH_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
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