Full data view for gene C12orf65

NOTE: gene name changed from C12orf65 to MTRFR
Information The variants shown are described using the NM_152269.4 transcript reference sequence.

26 entries on 1 page. Showing entries 1 - 26.
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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.44G>A r.(?) p.(Arg15Gln) Parent #1 - benign g.123738265G>A g.123253718G>A - - C12orf65_000005 21 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs78651634 Germline - 21/2793 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 21 Mohammed Faruq
-?/. - c.54G>A r.(?) p.(Pro18=) Unknown - likely benign g.123738275G>A g.123253728G>A MTRFR(NM_001194995.1):c.54G>A (p.P18=) - C12orf65_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.96_99dup r.(?) p.(Pro34Ilefs*25) Both (homozygous) - pathogenic (recessive) g.123738317_123738320dup g.123253770_123253773dup c.96_99dupATCC - C12orf65_000010 - PubMed: Taylor 2014 - - Germline - - - - - DNA SEQ, SEQ-NG - WES ? Pat21 PubMed: Taylor 2014 2 affected F - Ireland Irish - - - - 2 Johan den Dunnen
-?/. - c.112G>A r.(?) p.(Val38Ile) Unknown - likely benign g.123738333G>A g.123253786G>A MTRFR(NM_001194995.1):c.112G>A (p.V38I) - C12orf65_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/? ? c.210del r.(?) p.(Gly72Alafs*13) Both (homozygous) - pathogenic g.123738431del g.123253884del 210delA - C12orf65_000002 - PubMed: Antonicka 2010 - - Germline - - - - - DNA SEQ - - LS - - - M - - Dutch - - - - 1 LOVD
+/. - c.210del r.(?) p.(Gly72AlafsTer13) Unknown - pathogenic g.123738431del g.123253884del C12orf65(NM_001194995.1):c.210delA (p.G72Afs*13), C12orf65(NM_152269.5):c.210del (p.(Gly72AlafsTer13)), MTRFR(NM_152269.5):c.210delA (p.G72Afs*13) - C12orf65_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.210del r.(?) p.(Gly72AlafsTer13) Unknown - pathogenic g.123738431del - C12orf65(NM_001194995.1):c.210delA (p.G72Afs*13), C12orf65(NM_152269.5):c.210del (p.(Gly72AlafsTer13)), MTRFR(NM_152269.5):c.210delA (p.G72Afs*13) - C12orf65_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.210del r.(?) p.(Gly72AlafsTer13) Unknown - pathogenic g.123738431del - C12orf65(NM_001194995.1):c.210delA (p.G72Afs*13), C12orf65(NM_152269.5):c.210del (p.(Gly72AlafsTer13)), MTRFR(NM_152269.5):c.210delA (p.G72Afs*13) - C12orf65_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.243C>G r.(?) p.(Cys81Trp) Unknown - VUS g.123738464C>G g.123253917C>G - - C12orf65_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.248del r.(?) p.(Val83Glyfs*2) Both (homozygous) ACMG pathogenic g.123738469del g.123253922del - - C12orf65_000001 - PubMed: Trujillano 2017 - - Germline - - - - - DNA SEQ, SEQ-NG - - COXPD7 - PubMed: Trujillano 2017 unaffected parents - - - - - - - - 1 Daniel Trujillano
+/. - c.248del r.(?) p.(Val83Glyfs*2) Both (homozygous) - pathogenic g.123738469del g.123253922del NM_001143905: c.248delT; p.V83fs - C12orf65_000001 - PubMed: Karaca 2015 - - Germline - - - - - DNA SEQ-NG-I - WES ? 26539891-FamBAB4635 PubMed: Karaca 2015 - - - - - - - family structure in paper - 2 Johan den Dunnen
+/? ? c.248del r.(?) p.(Val83Glyfs*2) Both (homozygous) - pathogenic g.123738469del g.123253922del 248delT - C12orf65_000001 - PubMed: Antonicka 2010 - - Germline - - - - - DNA SEQ - - LS - - Both parents (and an older sister) were heterozygous carriers of the mutation, making it unlikely. An older brother was homozygous for the wild-type allele. F - - Turkish - - - - 1 LOVD
-?/? ? c.248del r.(?) p.(Val83Glyfs*2) Unknown - likely benign g.123738469del g.123253922del 248delT - C12orf65_000001 - PubMed: Antonicka 2010 - - Germline - - - - - DNA SEQ - - Healthy/Control - - Father of Pat1 M - - Turkish - - - - 1 LOVD
-?/? ? c.248del r.(?) p.(Val83Glyfs*2) Unknown - likely benign g.123738469del g.123253922del 248delT - C12orf65_000001 - PubMed: Antonicka 2010 - - Germline - - - - - DNA SEQ - - Healthy/Control - - Mother of Pat1 F - - Turkish - - - - 1 LOVD
-?/? ? c.248del r.(?) p.(Val83Glyfs*2) Unknown - likely benign g.123738469del g.123253922del 248delT - C12orf65_000001 - PubMed: Antonicka 2010 - - Germline - - - - - DNA SEQ - - Healthy/Control - - Sister of Pat1 F - - Turkish - - - - 1 LOVD
+?/. - c.248del r.(?) p.(Val83GlyfsTer2) Both (homozygous) - likely pathogenic g.123738469del g.123253922del C12orf65 c.248delT, p.Val83GlyfsTer2 - C12orf65_000001 homozygous PubMed: Turro 2020 - - Germline/De novo (untested) ? - - - - DNA SEQ-NG-I blood whole genome sequencing NDD G013375 PubMed: Turro 2020 only individuals with mutations in retinal disease genes from this publication were inserted into LOVD ? - - - - - - - 1 LOVD
?/. - c.259A>G r.(?) p.(Ile87Val) Unknown - VUS g.123738480A>G - C12orf65(NM_001194995.1):c.259A>G (p.I87V) - C12orf65_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.282G>A r.(?) p.(Lys94=) Unknown - VUS g.123738503G>A - C12orf65(NM_001194995.1):c.282G>A (p.K94=) - C12orf65_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.309G>A r.(?) p.(Gln103=) Unknown - likely benign g.123741386G>A - MTRFR(NM_001194995.1):c.309G>A (p.Q103=) - C12orf65_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 3 c.346del r.(?) p.(Val116Ter) Both (homozygous) - pathogenic g.123741423del g.123256876del - - C12orf65_000013 - PubMed: Ganapathy 2019 - - Germline - - - - - DNA SEQ-NG - TruSight One panel ? S-3353 PubMed: Ganapathy 2019 - - - India - - - - - 1 Johan den Dunnen
?/. - c.368A>G r.(?) p.(Glu123Gly) Unknown - VUS g.123741445A>G g.123256898A>G C12orf65(NM_001143905.2):c.368A>G (p.(Glu123Gly)) - C12orf65_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.368_375del r.(?) p.(Glu123AlafsTer31) Parent #1 - pathogenic g.123741445_123741452del g.123256898_123256905del - - C12orf65_000016 ACMG PVS1, PS4, PM2, PM3, PP1, PP4, PubMed: Zheng 2024 - - Germline - - - - - DNA SEQ-NG - gene panel OPA F019P020II-2 PubMed: Zheng 2024 - M - China - - - - - 1 Johan den Dunnen
+/. - c.368_375del r.(?) p.(Glu123AlafsTer31) Parent #2 - pathogenic g.123741445_123741452del g.123256898_123256905del - - C12orf65_000016 ACMG PVS1, PS4, PM2, PM3, PP1, PP4, PubMed: Zheng 2024 - - Germline - - - - - DNA SEQ-NG - gene panel OPA F019P020II-2 PubMed: Zheng 2024 - M - China - - - - - 1 Johan den Dunnen
+?/. - c.371del r.(?) p.(Asn124Thrfs*52) Unknown - likely pathogenic g.123741448del - MTRFR(NM_152269.5):c.371delA (p.N124Tfs*52) - C12orf65_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.468A>G r.(?) p.(Lys156=) Unknown - likely benign g.123741545A>G - C12orf65(NM_001194995.1):c.468A>G (p.K156=) - C12orf65_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.475T>C r.(?) p.(Trp159Arg) Unknown - benign g.123741552T>C g.123257005T>C MTRFR(NM_001194995.1):c.475T>C (p.W159R) - C12orf65_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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