Transcript #00000065

Transcript name laminin, alpha 2
Gene name LAMA2 (laminin, alpha 2)
Chromosome 6
Transcript - NCBI ID NM_000426.3
Transcript - Ensembl ID -
Protein - NCBI ID NP_000417.2
Protein - Ensembl ID -
Protein - Uniprot ID -
Exon/intron information Exon/intron information table: HTML, Txt
Remarks -


Variants

2008 entries on 21 pages. Showing entries 1 - 100.
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Affects function     

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
?/? 1 c.-17del ACMG: 3 r.(?) p.(=)
?/. 1 c.-17del - r.(?) p.(=)
+/. 1i c.(112+1_113-1)? - r.[112_113ins112+1_112+75{?}] p.(fs*)
+/. 35i c.(5071+1_5072-1)ins(?) - r.5071_5072ins(?) p.fs*
+/. 35i_65_ c.5072-1408_(*150133_*3105322)del - r.(?) p.(?)
+/. 35i_65_ c.5072-1408_(*150133_*3105322)del - r.(?) p.(?)
+/+ 35i_65_ c.5072-1408_(*150133_*3105322)del ACMG: 5 (recessive) r.(?) p.?
?/. _1_65_ c.? - r.0 p.0
+/. _1_65_ c.? - r.? p.?
+/. 58 c.? - r.8076_8244del p.Pro2693_His2748delfs*12
?/. _1_65_ c.? - r.? p.?
?/. _1_65_ c.? - r.? p.?
+/. 1 c.? - r.0 p.0
+/. 1 c.? - r.0 p.0
+/. _1_65_ c.? - r.? p.?
+/. _1_65_ c.? - r.? p.?
+/. _1_65_ c.? - r.? p.?
?/. _1_65_ c.? - r.0 p.0
+/. _1_65_ c.? - r.? p.?
+/. _1_65_ c.? - r.? p.?
?/. _1_65_ c.? - r.? p.?
?/. _1_65_ c.? - r.? p.?
+/. _1_65_ c.? - r.? p.?
?/. _1_65_ c.? - r.? p.?
+/. _1_65_ c.? - r.? p.?
+/. 55i c.? - r.7750_7898del p.Ala2584Hisfs*8
+/. 55i c.? - r.7750_7898del p.Ala2584Hisfs*8
+/. 1 c.? - r.0 p.0
+/. _1_65_ c.? - r.? p.?
+/. 1 c.2T>C - r.(?) p.0?
+/+ 1 c.2T>C ACMG: 5 (recessive) r.(?) p.0?
+?/. 1 c.2T>C - r.(?) p.0?
+?/. 1 c.2T>C - r.(?) p.0?
+/. 1 c.2T>C - r.(?) p.0?
+/. 1 c.2T>C - r.2u>c p.0?
-?/. - c.13G>A likely benign r.(?) p.(Ala5Thr)
?/. 1 c.32T>C - r.(?) p.(Leu11Pro)
?/? 1 c.32T>C ACMG: 3 r.(?) p.(Leu11Pro)
?/. 1 c.35T>G - r.(?) p.(Leu12Arg)
+/. 1 c.35T>G - r.(?) p.(Leu12Arg)
+/+ 1 c.35T>G ACMG: 5 (recessive) r.(?) p.(Leu12Arg)
+?/. 1 c.47del - r.(?) p.(Gly16Alafs*29)
+/+ 1 c.47del ACMG: 5 (recessive) r.(?) p.(Gly16Alafs*29)
+/. - c.54_64del pathogenic r.(?) p.(Gly19Alafs*27)
+/+ 1 c.67_71del ACMG: 5 (recessive) r.(?) p.(Gln23Alafs*25)
+/+ 1 c.82C>T ACMG: 5 (recessive) r.(?) p.(Gln28*)
+/. 1 c.82C>T - r.82c>u p.Gln28*
+?/. 1 c.94C>T - r.(?) p.(Gln32*)
+/. 1 c.94C>T pathogenic r.(?) p.(Gln32*)
+?/+? 1 c.94C>T ACMG: 4 (recessive) r.(?) p.(Gln32*)
?/? 1 c.112G>A ACMG: 3 r.spl? p.?
?/. 1 c.112G>A - r.(?)^r.(spl?) p.(Gly38Ser)^p.?
?/? 1 c.112G>T ACMG: 3 r.spl? p.?
+/+ 1i c.112+1G>A ACMG: 5 (recessive) r.spl p.?
+/. 1i c.112+1G>A - r.spl? p.?
?/. 1i c.112+1G>A - r.spl? p.?
+/. 1i c.112+1G>A - r.spl? p.?
+/+ 1i c.112+3A>G ACMG: 5 (recessive) r.spl? p.?
+/. 1i c.112+3A>G - r.(spl?) p.?
+/. 1i_3i c.(112+1_113-1)_(396+1_397-1)del - r.(del?) p.(fs*?)
+/. 1i_3i c.(112+1_113-1)_(396+1_397-1)del - r.(del?) p.(fs*?)
+/+ 1i_3i c.(112+1_113-1)_(396+1_397-1)del ACMG: 5 (recessive) r.spl p.?
?/? 2 c.149C>T ACMG: 3 r.(?) p.(Ala50Val)
?/. 2 c.149C>T VUS r.(?) p.(Ala50Val)
-/. 2 c.156C>T benign r.(?) p.(=)
-/. 2 c.156C>T benign r.(?) p.(=)
-/. 2 c.156C>T benign r.(?) p.(=)
-/- 2 c.156C>T ACMG: 1 r.(?) p.(=)
-/. 2 c.156C>T benign r.(?) p.(=)
-/. 2 c.156C>T benign r.(?) p.(=)
+/. - c.164del ACMG: 5 r.(?) p.(Asn55Metfs*16)
+?/. 2 c.164del - r.(?) p.(Asn55Metfs*16)
+?/+? 2 c.164del ACMG: 4 (recessive) r.(?) p.(Asn55Metfs*16)
+?/+? 2 c.184G>T ACMG: 4 (recessive) r.(?) p.(Gly62*)
?/. 2 c.184G>T - r.(?) p.(Gly62*)
?/. 2 c.245A>T - r.(?) p.(Gln82Leu)
?/? 2 c.245A>T ACMG: 3 r.(?) p.(Gln82Leu)
+/. 2 c.(247T>C) - r.(247u>c) p.Cys83Arg
+/+ 2 c.(247T>C) ACMG: 5 (recessive) r.(?) p.(Cys83Arg)
-?/. 2 c.255C>T likely benign r.(?) p.(=)
-/. 2 c.255C>T benign r.(?) p.(=)
-?/-? 2 c.255C>T ACMG: 2 r.(?) p.(=)
?/? 2 c.257G>A ACMG: 3 r.(?) p.(Cys86Tyr)
?/. 2 c.257G>A - r.(?) p.(Cys86Tyr)
?/? 2 c.277C>A ACMG: 3 r.(?) p.(Pro93Thr)
?/. 2 c.277C>A VUS r.(?) p.(Pro93Thr)
+/. 2 c.283C>T - r.283c>u p.Gln95*
+/. 2 c.283C>T - r.283c>u p.Gln95*
+/. 2 c.283C>T - r.(?) p.(Gln95*)
+/+ 2 c.283C>T ACMG: 5 (recessive) r.(?) p.(Gln95*)
+/+ 2i c.(283+1G>A) ACMG: 5 (recessive) r.spl p.(Val78_Gln132del)
+/. 2i c.(283+1G>A) - r.spl? p.(Val78_Gln132del)
+/+ 2i c.283+1G>A ACMG: 5 (recessive) r.spl p.?
+/. 2i c.283+1G>A - r.spl? p.?
+/. 2i c.283+1G>A - r.spl? p.?
+/. 2i c.283+1G>C - r.spl? p.?
+/. 2i c.283+1G>C - r.spl? p.?
+/+ 2i c.283+1G>C ACMG: 5 (recessive) r.spl p.?
+?/. 2i c.283+2del - r.spl? p.?
+?/+? 2i c.283+2del ACMG: 4 (recessive) r.spl p.?
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