Full data view for gene MTHFD1

Information The variants shown are described using the NM_005956.3 transcript reference sequence.

38 entries on 1 page. Showing entries 1 - 38.
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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.53C>T r.(?) p.(Ala18Val) Unknown - likely benign g.64867522C>T g.64400804C>T MTHFD1(NM_005956.4):c.53C>T (p.A18V) - MTHFD1_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.120A>G r.(?) p.(Ile40Met) Unknown - VUS g.64867589A>G g.64400871A>G MTHFD1(NM_005956.4):c.120A>G (p.I40M) - MTHFD1_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.282A>G r.(?) p.(Val94=) Unknown - likely benign g.64882117A>G g.64415399A>G MTHFD1(NM_005956.4):c.282A>G (p.V94=) - MTHFD1_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.347A>G r.(?) p.(Asn116Ser) Unknown - VUS g.64882182A>G g.64415464A>G MTHFD1(NM_005956.4):c.347A>G (p.N116S) - MTHFD1_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.517C>T r.(?) p.(Arg173Cys) Unknown - pathogenic g.64884644C>T g.64417926C>T - - MTHFD1_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.518G>A r.(?) p.(Arg173His) Unknown - VUS g.64884645G>A g.64417927G>A MTHFD1(NM_005956.4):c.518G>A (p.R173H) - MTHFD1_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.567T>C r.(?) p.(Asn189=) Unknown - likely benign g.64884694T>C - MTHFD1(NM_005956.4):c.567T>C (p.N189=) - MTHFD1_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.582C>A r.(?) p.(Thr194=) Unknown - likely benign g.64884709C>A g.64417991C>A MTHFD1(NM_005956.4):c.582C>A (p.T194=) - MTHFD1_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.616G>A r.(?) p.(Val206Ile) Unknown - likely benign g.64886532G>A - MTHFD1(NM_005956.4):c.616G>A (p.V206I) - MTHFD1_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.646A>G r.(?) p.(Thr216Ala) Unknown - likely benign g.64886562A>G - MTHFD1(NM_005956.4):c.646A>G (p.T216A) - MTHFD1_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.855+13A>C r.(=) p.(=) Unknown - likely benign g.64891662A>C - MTHFD1(NM_005956.4):c.855+13A>C - MTHFD1_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.878G>A r.(?) p.(Arg293His) Unknown - VUS g.64892470G>A - MTHFD1(NM_005956.4):c.878G>A (p.R293H) - MTHFD1_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.878G>A r.(?) p.(Arg293His) Unknown - likely benign g.64892470G>A - MTHFD1(NM_005956.4):c.878G>A (p.R293H) - MTHFD1_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.983C>T r.(?) p.(Pro328Leu) Unknown - VUS g.64892766C>T g.64426048C>T MTHFD1(NM_005956.4):c.983C>T (p.P328L) - MTHFD1_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.1043A>G r.(?) p.(Tyr348Cys) Unknown - VUS g.64892826A>G - MTHFD1(NM_005956.4):c.1043A>G (p.Y348C) - MTHFD1_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1128-16del r.(=) p.(=) Unknown - benign g.64894039del g.64427321del MTHFD1(NM_005956.4):c.1128-16delT - MTHFD1_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.1128-10C>T r.(=) p.(=) Unknown - likely benign g.64894045C>T g.64427327C>T MTHFD1(NM_005956.4):c.1128-10C>T - MTHFD1_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.1128-10C>T r.(=) p.(=) Unknown - likely benign g.64894045C>T g.64427327C>T MTHFD1(NM_005956.4):c.1128-10C>T - MTHFD1_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1128-9G>A r.(=) p.(=) Unknown - likely benign g.64894046G>A - MTHFD1(NM_005956.4):c.1128-9G>A - MTHFD1_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1312-6T>C r.(=) p.(=) Unknown - likely benign g.64898244T>C g.64431526T>C MTHFD1(NM_005956.4):c.1312-6T>C - MTHFD1_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1390A>G r.(?) p.(Ile464Val) Unknown - likely benign g.64898328A>G g.64431610A>G MTHFD1(NM_005956.4):c.1390A>G (p.I464V) - MTHFD1_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1400_1401del r.(?) p.(Glu467Alafs*10) Unknown - pathogenic g.64898338_64898339del - MTHFD1(NM_005956.4):c.1400_1401delAA (p.E467Afs*10) - MTHFD1_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1402C>T r.(?) p.(Leu468=) Unknown - pathogenic g.64898340C>T - MTHFD1(NM_005956.4):c.1402C>T (p.L468=) - MTHFD1_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1494+20C>A r.(=) p.(=) Unknown - likely benign g.64898599C>A g.64431881C>A MTHFD1(NM_005956.4):c.1494+20C>A - MTHFD1_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1561T>C r.(?) p.(Leu521=) Unknown - likely benign g.64902353T>C - MTHFD1(NM_005956.4):c.1561T>C (p.L521=) - MTHFD1_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1618T>G r.(?) p.(Phe540Val) Unknown - VUS g.64905834T>G - MTHFD1(NM_005956.4):c.1618T>G (p.F540V) - MTHFD1_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1779C>T r.(?) p.(Ser593=) Unknown - likely benign g.64906948C>T g.64440230C>T MTHFD1(NM_005956.4):c.1779C>T (p.S593=) - MTHFD1_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1807G>A r.(?) p.(Glu603Lys) Unknown - VUS g.64906976G>A g.64440258G>A MTHFD1(NM_005956.4):c.1807G>A (p.E603K) - MTHFD1_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2079C>T r.(?) p.(His693=) Unknown - likely benign g.64909063C>T g.64442345C>T MTHFD1(NM_005956.4):c.2079C>T (p.H693=) - MTHFD1_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2128G>A r.(?) p.(Gly710Ser) Unknown - VUS g.64909112G>A - - - MTHFD1_000024 - PubMed: Luo 2021, Journal: Luo 2021 - - Germline - - - - - DNA SEQ-NG PBMC WES virus, COVID19 - PubMed: Luo 2021, Journal: Luo 2021 analysis 233 patients - - China - - - - - 1 Liu Wenbing
-?/. - c.2170A>G r.(?) p.(Ile724Val) Unknown - likely benign g.64911444A>G g.64444726A>G MTHFD1(NM_005956.4):c.2170A>G (p.I724V) - AKAP5_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.2282C>T r.(?) p.(Thr761Met) Unknown - benign g.64916165C>T g.64449447C>T MTHFD1(NM_005956.4):c.2282C>T (p.T761M) - MTHFD1_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.2314C>T r.(?) p.(Arg772Cys) Unknown - VUS g.64916197C>T - - - MTHFD1_000025 - PubMed: Luo 2021, Journal: Luo 2021 - - Germline - - - - - DNA SEQ-NG PBMC WES virus, COVID19 - PubMed: Luo 2021, Journal: Luo 2021 analysis 233 patients - - China - - - - - 1 Liu Wenbing
-/. - c.2315G>A r.(?) p.(Arg772His) Unknown - benign g.64916198G>A g.64449480G>A MTHFD1(NM_005956.4):c.2315G>A (p.R772H) - MTHFD1_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.2530G>A r.(?) p.(Glu844Lys) Unknown - likely benign g.64920544G>A - MTHFD1(NM_005956.4):c.2530G>A (p.E844K) - AKAP5_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2566-6C>T r.(=) p.(=) Unknown - likely benign g.64921435C>T - MTHFD1(NM_005956.4):c.2566-6C>T - AKAP5_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2627A>G r.(?) p.(Glu876Gly) Unknown - VUS g.64921502A>G g.64454784A>G MTHFD1(NM_005956.4):c.2627A>G (p.E876G) - AKAP5_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2668G>A r.(?) p.(Asp890Asn) Unknown - VUS g.64921543G>A - MTHFD1(NM_005956.4):c.2668G>A (p.D890N) - AKAP5_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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