Full data view for gene MFSD8

An NCL gene variant database
Information The variants shown are described using the NM_152778.2 transcript reference sequence.

25 entries on 1 page. Showing entries 1 - 25.
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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.1361T>C r.(?) p.(Met454Thr) Unknown - likely pathogenic g.128841981A>G g.127920826A>G MFSD8(NM_152778.4):c.1361T>C (p.M454T) - MFSD8_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1361T>C r.(?) p.(Met454Thr) Both (homozygous) - pathogenic (recessive) g.128841981A>G - 4:128841981A>G ENST00000296468.3:c.1361T>C (Met454Thr) - MFSD8_000042 - PubMed: Carss 2017 - - Germline - - - - - DNA SEQ-NG - WGS retinal disease G005235 PubMed: Carss 2017 - F - United Kingdom (Great Britain) Asia-South - - - - 1 LOVD
+/. - c.1361T>C r.(?) p.(Met454Thr) Both (homozygous) - pathogenic (recessive) g.128841981A>G - 4:128841981A>G ENST00000296468.3:c.1361T>C (Met454Thr) - MFSD8_000042 - PubMed: Carss 2017 - - Germline - - - - - DNA SEQ-NG - WGS retinal disease G005501 PubMed: Carss 2017 - M - United Kingdom (Great Britain) Asia-South - - - - 1 LOVD
+/. - c.1361T>C r.(?) p.(Met454Thr) Both (homozygous) - pathogenic (recessive) g.128841981A>G - 4:128841981A>G ENST00000296468.3:c.1361T>C (Met454Thr) - MFSD8_000042 - PubMed: Carss 2017 - - Germline - - - - - DNA SEQ-NG - WGS retinal disease G008157 PubMed: Carss 2017 - M - United Kingdom (Great Britain) Asia-South - - - - 1 LOVD
+/. - c.1361T>C r.(?) p.(Met454Thr) Both (homozygous) - pathogenic (recessive) g.128841981A>G - 4:128841981A>G ENST00000296468.3:c.1361T>C (Met454Thr) - MFSD8_000042 - PubMed: Carss 2017 - - Germline - - - - - DNA SEQ-NG - WGS retinal disease W000168 PubMed: Carss 2017 - F - United Kingdom (Great Britain) Asia-South - - - - 1 LOVD
+?/. - c.1361T>C r.(?) p.(Met454Thr) Unknown - likely pathogenic g.128841981A>G g.127920826A>G MFSD8 c.1361T>C, p.Met454Thr - MFSD8_000042 Located at end of transcript, heterozygous PubMed: Zampaglione 2020 - - Unknown ? - - - - DNA SEQ-NG-I, SEQ blood - retinal disease OGI2915_004500 PubMed: Zampaglione 2020 - ? - - - - - - - 1 LOVD
+?/. - c.1361T>C r.(?) p.(Met454Thr) Both (homozygous) - likely pathogenic g.128841981A>G g.127920826A>G MFSD8 c.1361T>C, p.Met454Thr - MFSD8_000042 homozygous PubMed: Turro 2020 - - Germline/De novo (untested) ? - - - - DNA SEQ-NG-I blood whole genome sequencing retinal disease G005235 PubMed: Turro 2020 only individuals with mutations in retinal disease genes from this publication were inserted into LOVD ? - (United Kingdom (Great Britain)) - - - - - 1 LOVD
+?/. - c.1361T>C r.(?) p.(Met454Thr) Both (homozygous) - likely pathogenic g.128841981A>G g.127920826A>G MFSD8 c.1361T>C, p.Met454Thr - MFSD8_000042 homozygous PubMed: Turro 2020 - - Germline/De novo (untested) ? - - - - DNA SEQ-NG-I blood whole genome sequencing retinal disease G005501 PubMed: Turro 2020 only individuals with mutations in retinal disease genes from this publication were inserted into LOVD ? - (United Kingdom (Great Britain)) - - - - - 1 LOVD
+?/. - c.1361T>C r.(?) p.(Met454Thr) Both (homozygous) - likely pathogenic g.128841981A>G g.127920826A>G MFSD8 c.1361T>C, p.Met454Thr - MFSD8_000042 homozygous PubMed: Turro 2020 - - Germline/De novo (untested) ? - - - - DNA SEQ-NG-I blood whole genome sequencing retinal disease G008157 PubMed: Turro 2020 only individuals with mutations in retinal disease genes from this publication were inserted into LOVD ? - (United Kingdom (Great Britain)) - - - - - 1 LOVD
+?/. - c.1361T>C r.(?) p.(Met454Thr) Both (homozygous) - likely pathogenic g.128841981A>G g.127920826A>G MFSD8 c.1361T>C, p.Met454Thr - MFSD8_000042 homozygous PubMed: Turro 2020 - - Germline/De novo (untested) ? - - - - DNA SEQ-NG-I blood whole genome sequencing retinal disease W000168 PubMed: Turro 2020 only individuals with mutations in retinal disease genes from this publication were inserted into LOVD ? - - - - - - - 1 LOVD
+?/. - c.1361T>C r.(?) p.(Met454Thr) Parent #2 - likely pathogenic g.128841981A>G g.127920826A>G MFSD8 c.1361T>C (p.Met454Thr) - MFSD8_000042 heterozygous PubMed: Patino 2014 - - Germline yes - - - - DNA SEQ-NG, SEQ blood whole-exome sequencing retinal disease P1 PubMed: Patino 2014 Indian family, sibling 2 (sibling's 1 DNA could not be obtained) M - India Indian - - - - 1 LOVD
+?/. - c.1361T>C r.(?) p.(Met454Thr) Parent #2 - likely pathogenic g.128841981A>G g.127920826A>G MFSD8 c.1361T>C (p.Met454Thr) - MFSD8_000042 heterozygous PubMed: Patino 2014 - - Germline yes - - - - DNA SEQ-NG, SEQ blood whole-exome sequencing retinal disease P2 PubMed: Patino 2014 Indian family, sibling 4 (sibling's 1 DNA could not be obtained) F - India Indian - - - - 1 LOVD
+?/. - c.1361T>C r.(?) p.(Met454Thr) Both (homozygous) - likely pathogenic g.128841981A>G g.127920826A>G MFSD8 c.1361T>C, p.Met454Thr - MFSD8_000042 homozygous PubMed: Khan 2017 - - Germline yes - - - - DNA SEQ-NG, SEQ blood whole exome or genome next generation sequencing retinal disease GC17967 PubMed: Khan 2017 - M yes - Turkish - - - - 1 LOVD
+?/. - c.1361T>C r.(?) p.(Met454Thr) Both (homozygous) - likely pathogenic g.128841981A>G g.127920826A>G MFSD8 c.1361T>C, p.Met454Thr - MFSD8_000042 homozygous PubMed: Khan 2017 - - Germline yes - - - - DNA SEQ-NG, SEQ blood whole exome or genome next generation sequencing retinal disease GC14328 PubMed: Khan 2017 - F yes - South Indian - - - - 1 LOVD
+?/. - c.1361T>C r.(?) p.(Met454Thr) Both (homozygous) - likely pathogenic g.128841981A>G g.127920826A>G MFSD8 c.1361T>C, p.Met454Thr - MFSD8_000042 homozygous PubMed: Khan 2017 - - Germline yes - - - - DNA SEQ-NG, SEQ blood whole exome or genome next generation sequencing retinal disease GC18458 PubMed: Khan 2017 - M - - Western Indian (Gujarati) - - - - 1 LOVD
+?/. - c.1361T>C r.(?) p.(Met454Thr) Both (homozygous) - likely pathogenic g.128841981A>G g.127920826A>G MFSD8 c.1361T>C, p.Met454Thr - MFSD8_000042 homozygous PubMed: Khan 2017 - - Germline yes - - - - DNA SEQ-NG, SEQ blood whole exome or genome next generation sequencing retinal disease GC19832 PubMed: Khan 2017 - M - - South Indian - - - - 1 LOVD
+?/. - c.1361T>C r.(?) p.(Met454Thr) Both (homozygous) - likely pathogenic g.128841981A>G g.127920826A>G MFSD8 c.1361T>C, p.Met454Thr - MFSD8_000042 homozygous PubMed: Khan 2017 - - Germline yes - - - - DNA SEQ-NG, SEQ blood whole exome or genome next generation sequencing retinal disease GC3716 PubMed: Khan 2017 - M yes - Tamil - - - - 1 LOVD
+?/. - c.1361T>C r.(?) p.(Met454Thr) Both (homozygous) - likely pathogenic g.128841981A>G g.127920826A>G MFSD8 c.1361T>C, p.Met454Thr - MFSD8_000042 homozygous PubMed: Khan 2017 - - Germline yes - - - - DNA SEQ-NG, SEQ blood whole exome or genome next generation sequencing retinal disease GC4694_II:1 PubMed: Khan 2017 - F - - Indian - - - - 1 LOVD
+?/. - c.1361T>C r.(?) p.(Met454Thr) Both (homozygous) - likely pathogenic g.128841981A>G g.127920826A>G MFSD8 c.1361T>C, p.Met454Thr - MFSD8_000042 homozygous PubMed: Khan 2017 - - Germline yes - - - - DNA SEQ-NG, SEQ blood whole exome or genome next generation sequencing retinal disease GC4694_II:2 PubMed: Khan 2017 - M - - Indian - - - - 1 LOVD
?/. - c.1361T>C r.(?) p.(Met454Thr) Parent #1 - VUS g.128841981A>G g.127920826A>G MFSD8 c.1361T>C; p.M454T - MFSD8_000042 heterozygous PubMed: Zare-Abdollahi 2019 - - Germline yes - - - - DNA SEQ-NG, SEQ blood whole exome sequencing of the trio retinal disease A_V-1 PubMed: Zare-Abdollahi 2019 Family A, proband M yes Iran Iranian (Ardakan) - - - - 1 LOVD
?/. - c.1361T>C r.(?) p.(Met454Thr) Parent #1 - VUS g.128841981A>G g.127920826A>G MFSD8 c.1361T>C; p.M454T - MFSD8_000042 heterozygous PubMed: Zare-Abdollahi 2019 - - Germline yes - - - - DNA SEQ-NG, SEQ blood whole exome sequencing of the trio retinal disease A_V-7 PubMed: Zare-Abdollahi 2019 Family A, proband's sister 3 M yes Iran Iranian (Ardakan) - - - - 1 LOVD
?/. - c.1361T>C r.(?) p.(Met454Thr) Parent #1 - VUS g.128841981A>G g.127920826A>G MFSD8 c.1361T>C; p.M454T - MFSD8_000042 heterozygous PubMed: Zare-Abdollahi 2019 - - Germline yes - - - - DNA SEQ-NG, SEQ blood whole exome sequencing of the trio retinal disease A_V-9 PubMed: Zare-Abdollahi 2019 Family A, proband's 3rd cousin F yes Iran Iranian (Ardakan) - - - - 1 LOVD
?/. - c.1361T>C r.(?) p.(Met454Thr) Both (homozygous) - VUS g.128841981A>G g.127920826A>G MFSD8 c.1361T>C; p.M454T - MFSD8_000042 homozygous PubMed: Zare-Abdollahi 2019 - - Germline yes - - - - DNA SEQ-NG, SEQ blood whole exome sequencing of the trio retinal disease B_IV-1 PubMed: Zare-Abdollahi 2019 Family B, proband M yes Iran Iranian (Shahroud) - - - - 1 LOVD
?/. - c.1361T>C r.(?) p.(Met454Thr) Both (homozygous) - VUS g.128841981A>G g.127920826A>G MFSD8 c.1361T>C; p.M454T - MFSD8_000042 homozygous PubMed: Zare-Abdollahi 2019 - - Germline yes - - - - DNA SEQ-NG, SEQ blood whole exome sequencing of the trio retinal disease B_IV-2 PubMed: Zare-Abdollahi 2019 Family B, proband's brother M yes Iran Iranian (Shahroud) - - - - 1 LOVD
+?/. - c.1361T>C r.(?) p.(Met454Thr) Unknown - likely pathogenic g.128841981A>G - MFSD8(NM_152778.4):c.1361T>C (p.M454T) - MFSD8_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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