Transcript #00000287

Transcript name transcript variant 2
Gene name SLC7A7 (solute carrier family 7 (amino acid transporter light chain, y+L system), member 7)
Chromosome 14
Transcript - NCBI ID NM_001126105.2
Transcript - Ensembl ID -
Protein - NCBI ID NP_001119577.1
Protein - Ensembl ID -
Protein - Uniprot ID -
Exon/intron information Exon/intron information table: HTML, Txt
Remarks -


Variants

58 entries on 1 page. Showing entries 1 - 58.
Legend  

Affects function     

Exon     

AscendingDNA change (cDNA)     

Class.     

RNA change     

Protein     
+/+ 02c c.-44_499del - r.? p.?
+/+ 03 c.1A>C - r.(1a>c) p.?
+?/+? 03 c.14C>T - r.(14c>u) p.(Thr5Ile)
+/+ 03 c.105_107delGGA - r.(105_107delgga) p.(Glu36del)
+/+ 03 c.149T>A - r.149u>a p.(Met50Lys)
+?/+? 03 c.158C>T - r.(158c>u) p.(Ser53Leu)
+/+ 03 c.161G>T - r.161g>u p.(Gly54Val)
+/+ 03 c.215_218delCTCT - r.(215_218delcucu) p.(Ser72Trpfs*97)
+?/? 03 c.220_222dupGTC - r.(?) p.(Val74dup)
+?/+? 03 c.235G>A - r.(235g>a) p.(Gly79Arg)
+/+ 03 c.254_255delTT - r.254_255deluu p.(Phe85Trpfs*13)
+?/+? 03 c.282_283insTGG - r.(?) p.(Gly94_Thr95insTrp)
+?/+? 03 c.346_349delGCTT - r.(?) p.(Ala116Serfs*53)
+?/+? 03 c.371T>C - r.(370u>c) p.(Leu124Pro)
+?/+? 03 c.418G>C - r.(418g>c) p.(Ala140Pro)
+/+ 03 c.454T>C - r.(454u>c) p.(Phe152Leu)
+/+ i03 c.499+1G>A - r.-41_499del p.?
+/+ i03- c.500-4294_1908+1028del - r.? p.?
+/+ i03-i04 c.500-?_625+?del - r.500_625del p.(Cys167*)
+/+ i03-i05 c.500-?_770+?del - r.500_770del p.(Cys167*)
+/+ i03-i05 c.500-?_770+?del - r.500_770del p.(Cys167*)
+/+ 04 c.545dupT - r.(545dupu) p.(Val183Glyfs*9)
+/+ 04 c.563C>T - r.563c>u p.(Thr188Ile)
+?/+? 04 c.571A>G - r.(571a>g) p.(Lys191Glu)
+/+ 04 c.622C>T - r.(622c>u) p.(Gln208*)
+/+ i04 c.625+1G>A - r.500_625del p.Cys167*
+?/+? i04 c.625+1G>C - r.spl? p.?
+?/+? 05 c.713C>T - r.713c>u p.(Ser238Phe)
+/+ 05 c.726G>A - r.(726g>a) p.(Trp242*)
+?/+? 05 c.753G>T - r.(753g>u) p.(Glu251Asp)
+/+ i05- c.771-848_1908+718del4647 - r.? p.?
+?/+? 06 c.782T>C - r.(782u>c) p.(Leu261Pro)
+/+ 06 c.820dupT - r.(820dupu) p.(Tyr274Leufs*21)
+?/+? i06 c.894+1G>T - r.spl? p.?
+?/+? i06 c.895-2A>G - r.spl? p.?
+/+ i06 c.895-2A>T - r.895_904delacuuuugcag p.Thr299Ilefs*10
+/. - c.895-2A>T ACMG 5 r.spl? p.?
+/+ 07 c.998G>T - r.[998g>a, 895_998del, 895_998del; 1096_1245del, 771_998del; 1096_1245del] p.[Arg333Met, Thr299Alafs*13, Thr299Alafs*13, Asn258_Arg333del; Gly366_Lys415del]
+?/+? i07 c.998+1G>T - r.spl? p?
+/+ 08 c.1001T>G - r.1001u>g p.Leu334Arg
+/+ 08 c.1005_1008delCTTT - r.1005_1008delcuuu p.Phe335Leufs*15
+?/+? 09 c.1013G>A - r.1013g>a p.(Gly338Asp)
+?/+? 09 c.1093A>T - r.(1093a>u) p.(Asn365Tyr)
+?/+? 09 c.1098dupT - r.(?) p.(Ile367Tyrfs*17)
+/+ 09 c.1147_1151dup - r.(1147_1151dupaacua) p.(Tyr384*)
+/+ 09 c.1158C>A - r.(1158c>a) p.(Ser386Arg)
+/+ 09 c.1185_1188delTTCT - r.(1185_1188deluucu) p.(Ser396Leufs*122)
+/+ 09 c.1228C>T - r.1228c>u p.(Arg410*)
+/+ 10 c.1262delC - r.1262delc p.(Pro421Argfs*98)
+?/+? 10 c.1273T>C - r.(1273u>c) p.(Cys425Arg)
+/+ 10 c.1344delC - r.1344delc p.(Ile449Leufs*70)
+/+ 10 c.1371C>A - r.1371c>a p.(Tyr457*)
+/+ 10 c.1381_1384dupATCA - r.1381_1384dupauca p.Arg462Asnfs*7
+/+ 10 c.1387delG - r.1387delg p.(Val463Cysfs*56)
+/+ 10 c.1402C>T - r.(1402c>u) p.(Arg468*)
+/+ 10 c.1417C>T - r.1421c>t p.(Arg473*)
+/+ 11 c.1460delG - r.1460delg p.(Cys487Leufs*32)
+?/+? 11 c.1465T>C - r.1465u>c p.(Ser489Pro)
Legend