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 transcript reference sequence.

40 entries on 1 page. Showing entries 1 - 40.
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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 - - - 0 - - - - - - - - - - - - - - - - - - -
+/. 1 c.161C>T r.(?) p.(Ser54Leu) Unknown - pathogenic g.79633639G>A g.79599742G>A - - MAF_000006 - PubMed: Niceta 2015 - - De novo - - - 0 - DNA, protein arraySNP - - ? - PubMed: Niceta 2015 - - - - - - - - - 1 Deepti Anand
+/. 1 c.161C>T r.(?) p.(Ser54Leu) Unknown - pathogenic g.79633639G>A g.79599742G>A - - MAF_000006 - PubMed: Niceta 2015 - - De novo - - - 0 - DNA, protein arraySNP - - ? - PubMed: Niceta 2015 - - - - - - - - - 1 Deepti Anand
+/. 1 c.172A>G r.(?) p.(Thr58Ala) Unknown - pathogenic g.79633628T>C g.79599731T>C - - MAF_000005 - PubMed: Niceta 2015 - - De novo - - - 0 - DNA, protein arraySNP - - ? - PubMed: Niceta 2015 - - - - - - - - - 1 Deepti Anand
+/. 1 c.173C>T r.(?) p.(Thr58Ile) Unknown - pathogenic g.79633627G>A g.79599730G>A - - MAF_000004 - PubMed: Niceta 2015 - - Germline - - - 0 - DNA, protein arraySNP - - ? - PubMed: Niceta 2015 - - - - - - - - - 1 Deepti Anand
+/. 1 c.176C>A r.(?) p.(Pro59His) Unknown - pathogenic g.79633624G>T g.79599727G>T - - MAF_000002 - PubMed: Niceta 2015 - - De novo - - - 0 - DNA, protein arraySNP - - ? - PubMed: Niceta 2015 - - - - - - - - - 1 Deepti Anand
+/. 1 c.176C>T r.(?) p.(Pro59Leu) Unknown - pathogenic g.79633624G>A g.79599727G>A - - MAF_000003 - PubMed: Niceta 2015 - - De novo - - - 0 - DNA, protein arraySNP - - ? - PubMed: Niceta 2015 - - - - - - - - - 1 Deepti Anand
+/. 1 c.185C>G r.(?) p.(Thr62Arg) Unknown - pathogenic g.79633615G>C g.79599718G>C - - MAF_000001 - PubMed: Niceta 2015 - - De novo - - - 0 - DNA, protein arraySNP - - ? - PubMed: Niceta 2015 - - - - - - - - - 1 Deepti Anand
?/. - 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 - - - 0 - - - - - - - - - - - - - - - - - - -
+/. 1 c.206C>G r.(?) p.(Pro69Arg) Parent #1 - pathogenic g.79633594G>C g.79599697G>C - - MAF_000012 - PubMed: Niceta 2015 - - De novo - - - 0 - DNA, protein arraySNP - - ? - PubMed: Niceta 2015 - - - - - - - - - 1 Deepti Anand
-?/. - 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 - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - 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 - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - 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 - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - 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 - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.600C>G r.(?) p.(Pro200=) Unknown - likely benign g.79633200G>C g.79599303G>C - - MAF_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - 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 - 0 - DNA SEQ-NG - gene panel CTRCT - PubMed: Sergouniotis 2016 analysis 181 cases - - United Kingdom (Great Britain) - - 0 - - 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.(Ala239GlyfsTer140) 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.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 - - - 0 - - - - - - - - - - - - - - - - - - -
+/. - c.809C>A r.(?) p.(Ser270Tyr) Paternal (inferred) - pathogenic g.79632991G>T g.79599094G>T - - MAF_000025 - PubMed: Dudakova 2017 - - Germline - - - 0 - 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 - - 0 - - 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 - - 0 - DNA SEQ - - CTRCT 28849415-FamPatIII1 PubMed: Dudakova 2017 - F - Czech Republic - - 0 - - 1 Johan den Dunnen
+/. 1 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 - - 0 - DNA, protein arraySNP - - CTRCT - PubMed: Jamieson 2002 - - - - - - - - - 5 Deepti Anand
+/. 1 c.880C>T r.(?) p.(Arg294Trp) Unknown - pathogenic g.79632920G>A g.79599023G>A - - MAF_000010 - PubMed: Sun 2014 - - Germline ? - - 0 - DNA, protein arraySNP - - CTRCT - PubMed: Sun 2014 - - - China - - - - - 7 Deepti Anand
+/. 1 c.890A>G r.(?) p.(Lys297Arg) Parent #1 - pathogenic g.79632910T>C g.79599013T>C - - MAF_000009 - PubMed: Vanita 2006 - - Germline yes - - 0 - 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 ? - - 0 - DNA SEQ-NG blood - CTCRT-21;CCA-4 96 PubMed: Patel 2019 - ? - United Kingdom (Great Britain) - - 0 - - 1 LOVD
+?/. - c.895C>A r.(?) p.(Arg299Ser) Unknown - likely pathogenic g.79632905G>T g.79599008G>T - - MAF_000008 - PubMed: Hansen 2007 - - Germline - - - 0 - DNA, protein arraySNP - - CTRCT - PubMed: Hansen 2007 4 affected individuals from a family - - - - - - - - 4 Deepti Anand
+?/. 1 c.895C>A r.(?) p.(Arg299Ser) Unknown - likely pathogenic g.79632905G>T g.79599008G>T - - MAF_000008 - PubMed: Hansen 2007 - - Germline - - - 0 - DNA, protein arraySNP - - CTRCT - PubMed: Hansen 2007 4 affected individuals from a family - - - - - - - - 4 Deepti Anand
+?/. 1 c.895C>A r.(?) p.(Arg299Ser) Unknown - likely pathogenic g.79632905G>T g.79599008G>T - - MAF_000008 - PubMed: Hansen 2007 - - Germline - - - 0 - DNA, protein arraySNP - - CTRCT - PubMed: Hansen 2007 4 affected individuals from a family - - - - - - - - 4 Deepti Anand
?/. - 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 - VUS g.79632895G>A - - - MAF_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 1 c.908A>C r.(?) p.(Gln303Pro) Parent #1 - pathogenic g.79632892T>G g.79598995T>G - - MAF_000007 - PubMed: Narumi 2014 - - Germline yes - - 0 - DNA, protein arraySNP - - CTRCT - PubMed: Narumi 2014 - - - Japan - - - - - 6 Deepti Anand
+?/. 1 c.958A>G r.(?) p.(Lys320Glu) Unknown - likely pathogenic g.79632842T>C g.79598945T>C - - MAF_000013 - PubMed: Hansen 2009 - - Germline - - - 0 - DNA, protein arraySNP - - CTRCT - PubMed: Hansen 2009 4 affected individuals from a family - - - - - - - - 4 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.*4268G>A r.(=) p.(=) 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.*4288G>A r.(=) p.(=) 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 - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.*4293G>A r.(=) p.(=) 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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