Full data view for gene LAT

Information The variants shown are described using the NM_001014987.1 transcript reference sequence.

28 entries on 1 page. Showing entries 1 - 28.
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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.-7466532_*330743del r.0? p.0? Unknown - pathogenic g.21530207_29332245del g.21518886_29320924del - - CLN3_000009 decreased gene dosage PubMed: DDDS 2015, Journal: DDDS 2015 - - De novo - - - - - DNA SEQ, SEQ-NG-I - - ? - PubMed: DDDS 2015, Journal: DDDS 2015 family, 1 affected F - United Kingdom (Great Britain) - - - Decipher - 1 Johan den Dunnen
./. - c.-1813588_*2887182dup - - Unknown - pathogenic g.27183151_31888684dup g.27171830_31877363dup - - CLN3_000010 mosaicism, copy number 3 in 0.33 cells PubMed: DDDS 2015, Journal: DDDS 2015 - - Somatic - - - - - DNA SEQ, SEQ-NG-I - - ? - PubMed: DDDS 2015, Journal: DDDS 2015 family, affected sibling(s) M - United Kingdom (Great Britain) - - - Decipher - 2 Johan den Dunnen
+?/. - c.-896738_*5598498del r.0? p.0? Unknown - likely pathogenic g.28100001_34600000del g.28500001_35300000del CGH array, microdeletion in 16p11.2 - CRYM_000000 zygosity not written; probable breakpoints; pathogenic in literature; genes ANKS4B,CRYM,NPIPB3,SMG1P3,RRN3P3,MIR3680-1,MIR3680-2,SLC7A5P2,LOC101927814,METTL9,IGSF6,OTOA,OTOAP1,RRN3P1,NPIPB4,NPIPB5,UQCRC2,PDZD9,MOSMO,VWA3A,EEF2K,POLR3E,CDR2,MFSD13B,HS3ST2,USP31,SCNN1G,SCNN1B,COG7,GGA2,EARS2,UBFD1,NDUFAB1,PALB2,DCTN5,PLK1,ERN2,CHP2 PubMed: Ruberto 2020 - - Unknown ? - - - - DNA arrayCGH - targeted sequencing with 1 of 4 panels of OFTALMOgenics probes retinal disease 3 PubMed: Ruberto 2020 - ? - Italy - - - - - 1 LOVD
-?/. - c.-2887A>G r.(?) p.(=) Unknown - likely benign g.28993852A>G g.28982531A>G SPNS1(NM_001142448.1):c.1141A>G (p.(Ile381Val)) - SPNS1_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-505G>T r.(?) p.(=) Unknown - likely benign g.28996234G>T - LAT(NM_001014989.2):c.52G>T (p.A18S) - LAT_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.11C>T r.(?) p.(Ala4Val) Unknown - VUS g.28996749C>T - - - LAT_000005 - PubMed: Luo 2021, Journal: Luo 2021 - - Germline - - - - - DNA SEQ-NG PBMC WES IMD74 - PubMed: Luo 2021, Journal: Luo 2021 analysis 233 patients - - China - - - - - 1 Liu Wenbing
?/. - c.19G>T r.(?) p.(Val7Phe) Unknown - VUS g.28997060G>T - - - LAT_000004 - PubMed: Luo 2021, Journal: Luo 2021 - - Germline - - - - - DNA SEQ-NG PBMC WES IMD74 - PubMed: Luo 2021, Journal: Luo 2021 analysis 233 patients - - China - - - - - 1 Liu Wenbing
?/. - c.19G>T r.(?) p.(Val7Phe) Unknown - VUS g.28996757G>T - - - LAT_000004 - PubMed: Luo 2021, Journal: Luo 2021 - - Germline - - - - - DNA SEQ-NG PBMC WES IMD74 - PubMed: Luo 2021, Journal: Luo 2021 analysis 233 patients - - China - - - - - 1 Liu Wenbing
?/. - c.19G>T r.(?) p.(Val7Phe) Unknown - VUS g.28996757G>T - - - LAT_000004 - PubMed: Luo 2021, Journal: Luo 2021 - - Germline - - - - - DNA SEQ-NG PBMC WES IMD74 - PubMed: Luo 2021, Journal: Luo 2021 analysis 233 patients - - China - - - - - 1 Liu Wenbing
?/. - c.19G>T r.(?) p.(Val7Phe) Unknown - VUS g.28996757G>T - - - LAT_000004 - PubMed: Luo 2021, Journal: Luo 2021 - - Germline - - - - - DNA SEQ-NG PBMC WES IMD74 - PubMed: Luo 2021, Journal: Luo 2021 analysis 233 patients - - China - - - - - 1 Liu Wenbing
?/. - c.19G>T r.(?) p.(Val7Phe) Unknown - VUS g.28996757G>T - - - LAT_000004 - PubMed: Luo 2021, Journal: Luo 2021 - - Germline - - - - - DNA SEQ-NG PBMC WES IMD74 - PubMed: Luo 2021, Journal: Luo 2021 analysis 233 patients - - China - - - - - 1 Liu Wenbing
-?/. - c.108C>T r.(?) p.(Tyr36=) Unknown - likely benign g.28997041C>T - LAT(NM_001014987.2):c.108C>T (p.Y36=), LAT(NM_014387.3):c.108C>T (p.Y36=) - LAT_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.108C>T r.(?) p.(Tyr36=) Unknown - likely benign g.28997041C>T - LAT(NM_001014987.2):c.108C>T (p.Y36=), LAT(NM_014387.3):c.108C>T (p.Y36=) - LAT_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.128+14A>G r.(=) p.(=) Unknown - likely benign g.28997075A>G - LAT(NM_001014987.2):c.128+14A>G - LAT_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.181C>G r.(?) p.(Pro61Ala) Maternal (confirmed) - pathogenic (recessive) g.28997473C>G g.28986152C>G - - LAT_000011 - PubMed: Chu 2021 - - Germline yes - - - - DNA, protein PCR, SEQ-NG Blood WES POF FamPatII1/2 PubMed: Chu 2021 3 generation family, 2 affected sisters (2F), 1 affected, unaffected heterozygous carrier parents F ? China - >31y - - - 2 Maeve Soen
?/. - c.245C>T r.(?) p.(Pro82Leu) Unknown - VUS g.28997537C>T - - - LAT_000006 - PubMed: Luo 2021, Journal: Luo 2021 - - Germline - - - - - DNA SEQ-NG PBMC WES IMD74 - PubMed: Luo 2021, Journal: Luo 2021 analysis 233 patients - - China - - - - - 1 Liu Wenbing
?/. - c.245C>T r.(?) p.(Pro82Leu) Unknown - VUS g.28997537C>T - - - LAT_000006 - PubMed: Luo 2021, Journal: Luo 2021 - - Germline - - - - - DNA SEQ-NG PBMC WES IMD74 - PubMed: Luo 2021, Journal: Luo 2021 analysis 233 patients - - China - - - - - 1 Liu Wenbing
?/. - c.245C>T r.(?) p.(Pro82Leu) Unknown - VUS g.28997537C>T - - - LAT_000006 - PubMed: Luo 2021, Journal: Luo 2021 - - Germline - - - - - DNA SEQ-NG PBMC WES IMD74 - PubMed: Luo 2021, Journal: Luo 2021 analysis 233 patients - - China - - - - - 1 Liu Wenbing
+/. - c.245C>T r.(?) p.(Pro82Leu) Paternal (confirmed) - pathogenic (recessive) g.28997537C>T g.28986216C>T - - LAT_000006 - PubMed: Chu 2021 - - Germline yes - - - - DNA, protein PCR, SEQ-NG Blood WES POF FamPatII1/2 PubMed: Chu 2021 3 generation family, 2 affected sisters (2F), 1 affected, unaffected heterozygous carrier parents F ? China - >31y - - - 2 Maeve Soen
?/. - c.277C>T r.(?) p.(Arg93Trp) Unknown - VUS g.28997734C>T - LAT(NM_014387.3):c.277C>T (p.R93W) - LAT_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.318T>C r.(?) p.(Ser106=) Unknown - likely benign g.28997868T>C g.28986547T>C LAT(NM_014387.3):c.318T>C (p.S106=), LAT(NM_014387.4):c.318T>C (p.S106=) - LAT_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.318T>C r.(?) p.(Ser106=) Unknown - likely benign g.28997868T>C g.28986547T>C LAT(NM_014387.3):c.318T>C (p.S106=), LAT(NM_014387.4):c.318T>C (p.S106=) - LAT_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.341-38G>A r.(=) p.(=) Unknown - likely benign g.28997940G>A g.28986619G>A LAT(NM_014387.3):c.390G>A (p.P130=), LAT(NM_014387.4):c.390G>A (p.P130=) - LAT_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.341-38G>A r.(=) p.(=) Unknown - likely benign g.28997940G>A g.28986619G>A LAT(NM_014387.3):c.390G>A (p.P130=), LAT(NM_014387.4):c.390G>A (p.P130=) - LAT_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.446C>T r.(?) p.(Ser149Leu) Unknown - VUS g.28998167C>T - - - LAT_000007 - PubMed: Luo 2021, Journal: Luo 2021 - - Germline - - - - - DNA SEQ-NG PBMC WES IMD74 - PubMed: Luo 2021, Journal: Luo 2021 analysis 233 patients - - China - - - - - 1 Liu Wenbing
-?/. - c.513C>T r.(?) p.(Tyr171=) Unknown - likely benign g.29000867C>T - LAT(NM_001014987.2):c.513C>T (p.Y171=) - LAT_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.622+11C>T r.(=) p.(=) Unknown - likely benign g.29001171C>T - LAT(NM_001014987.2):c.622+11C>T - LAT_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.657G>A r.(?) p.(Glu219=) Unknown - likely benign g.29001288G>A - LAT(NM_014387.3):c.744G>A (p.E248=) - LAT_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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