Full data view for gene MAF

This database is one of the "Eye disease" gene variant databases.
Information The variants shown are described using the NM_005360.4 transcript reference sequence.

60 entries on 1 page. Showing entries 1 - 60.
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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.5C>A r.(?) p.(Ala2Glu) Unknown - VUS g.79633795G>T g.79599898G>T MAF(NM_001031804.2):c.5C>A (p.A2E) - MAF_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.161C>T r.(?) p.(Ser54Leu) Unknown - pathogenic g.79633639G>A g.79599742G>A - - MAF_000006 - PubMed: Niceta 2015 - - De novo - - - - - DNA, protein arraySNP - - ? - PubMed: Niceta 2015 - - - - - - - - - 1 Deepti Anand
+/. - c.161C>T r.(?) p.(Ser54Leu) Unknown - pathogenic g.79633639G>A g.79599742G>A - - MAF_000006 - PubMed: Niceta 2015 - - De novo - - - - - DNA, protein arraySNP - - ? - PubMed: Niceta 2015 - - - - - - - - - 1 Deepti Anand
+/. - c.172A>G r.(?) p.(Thr58Ala) Unknown - pathogenic g.79633628T>C g.79599731T>C - - MAF_000005 - PubMed: Niceta 2015 - - De novo - - - - - DNA, protein arraySNP - - ? - PubMed: Niceta 2015 - - - - - - - - - 1 Deepti Anand
+/. - c.173C>T r.(?) p.(Thr58Ile) Unknown - pathogenic g.79633627G>A g.79599730G>A - - MAF_000004 - PubMed: Niceta 2015 - - Germline - - - - - DNA, protein arraySNP - - ? - PubMed: Niceta 2015 - - - - - - - - - 1 Deepti Anand
+/. - c.176C>A r.(?) p.(Pro59His) Unknown - pathogenic g.79633624G>T g.79599727G>T - - MAF_000002 - PubMed: Niceta 2015 - - De novo - - - - - DNA, protein arraySNP - - ? - PubMed: Niceta 2015 - - - - - - - - - 1 Deepti Anand
+/. - c.176C>T r.(?) p.(Pro59Leu) Unknown - pathogenic g.79633624G>A g.79599727G>A - - MAF_000003 - PubMed: Niceta 2015 - - De novo - - - - - DNA, protein arraySNP - - ? - PubMed: Niceta 2015 - - - - - - - - - 1 Deepti Anand
+/. - c.185C>G r.(?) p.(Thr62Arg) Unknown - pathogenic g.79633615G>C g.79599718G>C - - MAF_000001 - PubMed: Niceta 2015 - - De novo - - - - - DNA, protein arraySNP - - ? - PubMed: Niceta 2015 - - - - - - - - - 1 Deepti Anand
+?/. - c.185C>T r.(?) p.(Thr62Met) Maternal (inferred) - likely pathogenic (dominant) g.79633615G>A g.79599718G>A - - MAF_000046 - PubMed: Poli 2024 1320073 - Germline - - - - - DNA SEQ, SEQ-NG - WES ? Pat4 PubMed: Poli 2024 - F - Chile - - - - - 1 Johan den Dunnen
?/. - c.187C>T r.(?) p.(Pro63Ser) Unknown - VUS g.79633613G>A - - - MAF_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.197C>G r.(?) p.(Ser66Trp) Unknown - VUS g.79633603G>C g.79599706G>C MAF(NM_001031804.3):c.197C>G (p.S66W) - MAF_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.206C>G r.(?) p.(Pro69Arg) Parent #1 - pathogenic g.79633594G>C g.79599697G>C - - MAF_000012 - PubMed: Niceta 2015 - - De novo - - - - - DNA, protein arraySNP - - ? - PubMed: Niceta 2015 - - - - - - - - - 1 Deepti Anand
?/. - c.206del r.(?) p.(Pro69Leufs*26) Unknown - VUS g.79633598del - - - MAF_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.240G>C r.(?) p.(Ser80=) Unknown - likely benign g.79633560C>G g.79599663C>G MAF(NM_001031804.2):c.240G>C (p.S80=) - MAF_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.241G>A r.(?) p.(Gly81Ser) Unknown - VUS g.79633559C>T g.79599662C>T - - MAF_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.285C>A r.(?) p.(Thr95=) Unknown - likely benign g.79633515G>T g.79599618G>T MAF(NM_001031804.2):c.285C>A (p.T95=) - MAF_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.394G>T r.(?) p.(Ala132Ser) Unknown - VUS g.79633406C>A - MAF(NM_005360.5):c.394G>T (p.(Ala132Ser)) - chr16_007808 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.403G>C r.(?) p.(Ala135Pro) Unknown - likely benign g.79633397C>G - MAF(NM_005360.4):c.403G>C (p.(Ala135Pro)) - MAF_000052 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.433G>A r.(?) p.(Gly145Ser) Unknown - VUS g.79633367C>T g.79599470C>T MAF(NM_001031804.2):c.433G>A (p.G145S) - MAF_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.479C>T r.(?) p.(Ala160Val) Unknown - VUS g.79633321G>A g.79599424G>A MAF(NM_001031804.2):c.479C>T (p.A160V) - MAF_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.504_505insT r.(?) p.(Ala169Cysfs*207) Unknown - VUS g.79633295_79633296insA - MAF(NM_005360.5):c.504_505insT (p.(Ala169Cysfs*207)) - chr16_007807 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.547C>A r.(?) p.(His183Asn) Unknown - VUS g.79633253G>T - MAF(NM_005360.5):c.547C>A (p.(His183Asn)) - MAF_000048 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.569G>A r.(?) p.(Gly190Asp) Unknown - likely benign g.79633231C>T - MAF(NM_005360.4):c.569G>A (p.(Gly190Asp)) - MAF_000051 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.600C>G r.(?) p.(Pro200=) Unknown - likely benign g.79633200G>C g.79599303G>C - - MAF_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.696_701dup r.(?) p.(Gly237_Gly238dup) Parent #1 - VUS g.79633119_79633124dup g.79599222_79599227dup - - MAF_000033 no genotypes reported PubMed: Sergouniotis 2016 - - Germline - 1/181 individuals - - - DNA SEQ-NG - gene panel CTRCT - PubMed: Sergouniotis 2016 analysis 181 cases - - United Kingdom (Great Britain) - - - - - 1 LOVD
-/. - c.702A>C r.(?) p.(Gly234=) Unknown - benign g.79633098T>G - MAF(NM_001031804.2):c.702A>C (p.G234=) - MAF_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.715G>A r.(?) p.(Ala239Thr) Unknown - benign g.79633085C>T g.79599188C>T MAF(NM_001031804.2):c.715G>A (p.A239T) - MAF_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.716_726del r.(?) p.(Ala239GlyfsTer133) Unknown - pathogenic g.79633086_79633096del g.79599189_79599199del MAF(NM_001031804.2):c.716_726delCGGCGGGGGCG (p.A239Gfs*140) - MAF_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.730G>A r.(?) p.(Gly244Ser) Unknown - likely benign g.79633070C>T - MAF(NM_005360.4):c.730G>A (p.(Gly244Ser)) - MAF_000050 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.739C>T r.(?) p.(His247Tyr) Unknown - likely benign g.79633061G>A - MAF(NM_005360.4):c.739C>T (p.(His247Tyr)) - MAF_000049 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.782T>C r.(?) p.(Phe261Ser) Unknown - pathogenic (dominant) g.79633018A>G g.79599121A>G - - MAF_000041 - PubMed: Jackson 2020 - - Germline - - - - - DNA SEQ-NG - WGS ? Fam25141 PubMed: Jackson 2020 - - - United Kingdom (Great Britain) white - - - - 1 Johan den Dunnen
?/. - c.797T>G r.(?) p.(Leu266Arg) Unknown - VUS g.79633003A>C g.79599106A>C MAF(NM_001031804.2):c.797T>G (p.L266R) - MAF_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.809C>A r.(?) p.(Ser270Tyr) Paternal (inferred) - pathogenic g.79632991G>T g.79599094G>T - - MAF_000025 - PubMed: Dudakova 2017 - - Germline - - - - - DNA SEQ - WES CTRCT 28849415-FamPatI1/III3 PubMed: Dudakova 2017 3-generation family, 4 affected (2F, 2M), paternal grandmother and son III3, father (II4) not available F;M no Czech Republic - - - - - 4 Johan den Dunnen
+/. - c.809C>A r.(?) p.(Ser270Tyr) Paternal (inferred) - pathogenic g.79632991G>T g.79599094G>T - - MAF_000025 - PubMed: Dudakova 2017 - - Germline yes - - - - DNA SEQ - - CTRCT 28849415-FamPatIII1 PubMed: Dudakova 2017 - F - Czech Republic - - - - - 1 Johan den Dunnen
+?/. - c.819G>C r.(?) p.(Glu273Asp) Unknown - likely pathogenic (dominant) g.79632981C>G g.79599084C>G - - MAF_000044 parental samples unavailable, not present in sons PubMed: Ma 2016 - - Germline/De novo (untested) - - - - - DNA SEQ, SEQ-NG - gene panel CTRCT Fam6PatII1 PubMed: Ma 2016 2-generation family, 3 affected father/2 sons M - Australia - - - - - 3 Johan den Dunnen
+/. - c.863G>C r.(?) p.(Arg288Pro) Parent #1 - pathogenic g.79632937C>G g.79599040C>G 1670G>C (Arg288Pro) - MAF_000011 - PubMed: Jamieson 2002 - - Germline yes - - - - DNA, protein arraySNP - - CTRCT - PubMed: Jamieson 2002 - - - - - - - - - 5 Deepti Anand
+/. - c.880C>T r.(?) p.(Arg294Trp) Unknown - pathogenic g.79632920G>A g.79599023G>A - - MAF_000010 - PubMed: Sun 2014 - - Germline ? - - - - DNA, protein arraySNP - - CTRCT - PubMed: Sun 2014 - - - China - - - - - 7 Deepti Anand
+?/. - c.880C>T r.(?) p.(Arg294Trp) Unknown - likely pathogenic (dominant) g.79632920G>A g.79599023G>A - - MAF_000010 parental samples unavailable PubMed: Ma 2016 - - Germline/De novo (untested) - - - - - DNA SEQ, SEQ-NG - gene panel CTRCT Fam30PatII1 PubMed: Ma 2016 2-generation family, 1 affected, unaffected parents F - Australia - - - - - 1 Johan den Dunnen
+/. - c.890A>G r.(?) p.(Lys297Arg) Parent #1 - pathogenic g.79632910T>C g.79599013T>C - - MAF_000009 - PubMed: Vanita 2006 - - Germline yes - - - - DNA, protein arraySNP - - CTRCT - PubMed: Vanita 2006 - - - India - - - - - 12 Deepti Anand
+?/. - c.892A>T r.(?) p.(Asn298Tyr) Unknown - likely pathogenic g.79632908T>A g.79599011T>A c.892A-->T; p.Asn298Tyr - MAF_000034 no Sanger sequencing; heterozygous PubMed: Patel 2019 - - Germline ? - - - - DNA SEQ-NG blood - CTCRT21;CCA4 96 PubMed: Patel 2019 - ? - United Kingdom (Great Britain) - - - - - 1 LOVD
+?/. - c.895C>A r.(?) p.(Arg299Ser) Parent #1 - likely pathogenic g.79632905G>T g.79599008G>T - - MAF_000008 - PubMed: Hansen 2007, PubMed: Hansen 2009 - - Germline - - - - - DNA, protein arraySNP - - CTRCT CCMC0112 PubMed: Hansen 2007, PubMed: Hansen 2009 4 affected individuals from a family - - Denmark - - - - - 4 Deepti Anand
+?/. - c.895C>A r.(?) p.(Arg299Ser) Unknown - likely pathogenic g.79632905G>T - - - MAF_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.896G>C r.(?) p.(Arg299Pro) Unknown - VUS g.79632904C>G g.79599007C>G MAF(NM_001031804.2):c.896G>C (p.R299P) - MAF_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.905C>T r.(?) p.(Ala302Val) Unknown - pathogenic g.79632895G>A - - - MAF_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.905C>T r.(?) p.(Ala302Val) Maternal (confirmed) - likely pathogenic (dominant) g.79632895G>A g.79598998G>A - - MAF_000036 - PubMed: Reichsteiner 2021 RCV000533204.3 - Germline - - - - - DNA SEQ, SEQ-NG - WES CTRCT Fam11PatI1 PubMed: Reichsteiner 2021 3-generation family, 4 affected (3F, M) F - Switzerland - - - - - 4 Johan den Dunnen
+/. - c.908A>C r.(?) p.(Gln303Pro) Parent #1 - pathogenic g.79632892T>G g.79598995T>G - - MAF_000007 - PubMed: Narumi 2014 - - Germline yes - - - - DNA, protein arraySNP - - CTRCT - PubMed: Narumi 2014 - - - Japan - - - - - 6 Deepti Anand
+?/. - c.914G>A r.(?) p.(Cys305Trp) Unknown - likely pathogenic (dominant) g.79632886C>T g.79598989C>T NM_001031804.2:c.915C>T (Cys305Trp) - MAF_000043 parental samples unavailable PubMed: Ma 2016 - - Germline/De novo (untested) - - - - - DNA SEQ, SEQ-NG - gene panel CTRCT Fam27PatII1 PubMed: Ma 2016 2-generation family, 1 affected, unaffected parents M - Australia - - - - - 1 Johan den Dunnen
+/. - c.950A>G r.(?) p.(Glu317Gly) Unknown - pathogenic (dominant) g.79632850T>C g.79598953T>C - - MAF_000042 - PubMed: Li 2018 - - De novo - - - - - DNA SEQ, SEQ-NG - 80 gene panel CTRCT FamPat11 PubMed: Li 2018 2-generation family, 1 affected, unaffected non-carrier parents M - China - - - - - 1 Johan den Dunnen
+?/. - c.958A>G r.(?) p.(Lys320Glu) Unknown - likely pathogenic g.79632842T>C g.79598945T>C - - MAF_000013 - PubMed: Hansen 2009 - - Germline - - - - - DNA, protein arraySNP - - CTRCT CCMC0113 PubMed: Hansen 2009 4-generation family, 6 affected (5F, 1M) - - Denmark - - - - - 6 Deepti Anand
-?/. - c.1002C>G r.(?) p.(Ile334Met) Unknown - likely benign g.79632798G>C g.79598901G>C MAF(NM_001031804.2):c.1002C>G (p.(Ile334Met)) - MAF_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1051T>C r.(?) p.(Leu351=) Unknown - likely benign g.79632749A>G - MAF(NM_001031804.2):c.1051T>C (p.L351=) - MAF_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1106C>G r.(?) p.(Pro369Arg) Unknown - VUS g.79632694G>C - MAF(NM_001031804.3):c.1106C>G (p.P369R) - MAF_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1110G>C r.(?) p.(Glu370Asp) Unknown - VUS g.79632690C>G - MAF(NM_005360.5):c.1110G>C (p.E370D) - MAF_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. 1 c.1111T>A r.(?) p.(Phe371Ile) Unknown - VUS g.79632689A>T g.79598792A>T - - MAF_000045 - PubMed: Liu 2023 - - Germline - - - - - DNA SEQ, SEQ-NG - 792 gene panel CTRCT Fam131Pat349 PubMed: Liu 2023 family, 1 affected F - China - - - - - 2 Johan den Dunnen
?/. 1 c.1111T>A r.(?) p.(Phe371Ile) Unknown - VUS g.79632689A>T g.79598792A>T - - MAF_000045 - PubMed: Liu 2023 - - Germline - - - - - DNA SEQ, SEQ-NG - 792 gene panel Healthy/Control Fam131Pat350 PubMed: Liu 2023 relative M - China - - - - - 1 Johan den Dunnen
-?/. - c.1119-51C>T r.(=) p.(=) Unknown - likely benign g.79628501G>A - MAF(NM_005360.5):c.1119-51C>T - MAF_000053 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1119-18C>A r.(=) p.(=) Unknown - likely benign g.79628468G>T - MAF(NM_005360.5):c.1119-18C>A - MAF_000047 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1159G>A r.(?) p.(Ala387Thr) Unknown - likely benign g.79628410C>T g.79594513C>T MAF(NM_005360.4):c.1159G>A (p.A387T) - MAF_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1179G>A r.(?) p.(Gln393=) Unknown - likely benign g.79628390C>T g.79594493C>T MAF(NM_005360.4):c.1179G>A (p.Q393=) - MAF_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1184G>A r.(?) p.(Arg395His) Unknown - VUS g.79628385C>T - MAF(NM_005360.4):c.1184G>A (p.R395H) - MAF_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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