Transcript #00008132

Transcript name FRAS1 related extracellular matrix protein 2
Gene name FREM2 (FRAS1 related extracellular matrix protein 2)
Chromosome 13
Transcript - NCBI ID NM_207361.4
Transcript - Ensembl ID -
Protein - NCBI ID NP_997244.3
Protein - Ensembl ID -
Protein - Uniprot ID -
Exon/intron information Exon/intron information table: HTML, Txt
Remarks -


Variants

145 entries on 2 pages. Showing entries 1 - 100.
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Affects function     

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
+?/. 1 c.15del - r.(15del) p.(Thr6Leufs*36)
-?/. - c.109C>T likely benign r.(?) p.(Leu37Phe)
?/. - c.245C>T VUS r.(?) p.(Pro82Leu)
?/. - c.532C>T VUS r.(?) p.(Gln178*)
-/. - c.576G>A benign r.(=) p.(=)
-/. - c.576G>A benign r.(=) p.(=)
-?/. - c.1122T>A likely benign r.(?) p.(Asp374Glu)
?/. - c.1472A>G VUS r.(?) p.(His491Arg)
?/. - c.1505C>T VUS r.(?) p.(Ser502Phe)
-/. - c.1542C>T benign r.(=) p.(=)
?/. - c.1605C>T VUS r.(=) p.(=)
-?/. - c.1677G>C likely benign r.(?) p.(Gln559His)
-?/. - c.1913G>A likely benign r.(?) p.(Arg638Gln)
-/. - c.1941C>T benign r.(=) p.(=)
-/. - c.1959G>T benign r.(=) p.(=)
?/. - c.2053G>A VUS r.(?) p.(Gly685Arg)
-?/. - c.2111G>A likely benign r.(?) p.(Gly704Asp)
?/. - c.2128C>T VUS r.(?) p.(Arg710Cys)
-/. - c.2128C>T benign r.(?) p.(Arg710Cys)
-/. - c.2165G>A benign r.(?) p.(Arg722Lys)
?/. - c.2179C>T VUS r.(?) p.(Arg727Cys)
+/. - c.2206C>T pathogenic r.(?) p.(Arg736*)
-/. - c.2233T>C benign r.(?) p.(Ser745Pro)
-/. - c.2233T>C benign r.(?) p.(Ser745Pro)
?/. - c.2233T>G VUS r.(?) p.(Ser745Ala)
-/. - c.2250C>T benign r.(=) p.(=)
-/. - c.2250C>T benign r.(=) p.(=)
-?/. - c.2600C>T likely benign r.(?) p.(Thr867Ile)
-/. - c.2602C>G benign r.(?) p.(Leu868Val)
+/. - c.2695C>T pathogenic r.(?) p.(Arg899*)
?/. - c.2987T>A VUS r.(?) p.(Val996Asp)
?/. - c.3158T>G VUS r.(?) p.(Val1053Gly)
-/. - c.3209T>C benign r.(?) p.(Phe1070Ser)
-?/. - c.3271A>G likely benign r.(?) p.(Ser1091Gly)
+/. - c.3931G>T pathogenic r.(?) p.(Gly1311*)
-/. - c.4077T>A benign r.(=) p.(=)
?/. - c.4319C>A VUS r.(?) p.(Thr1440Lys)
+/. - c.4396C>T pathogenic r.(?) p.(Arg1466*)
-?/. - c.4432T>C likely benign r.(?) p.(Ser1478Pro)
+?/. - c.4654A>C likely pathogenic r.(?) p.(Thr1552Pro)
+?/. - c.4849T>C likely pathogenic r.(?) p.(Ser1617Pro)
-/. - c.4901C>T benign r.(?) p.(Thr1634Met)
-?/. - c.4991C>T likely benign r.(?) p.(Ala1664Val)
-/. - c.5003G>A benign r.(?) p.(Arg1668His)
-?/. - c.5059G>T likely benign r.(?) p.(Glu1687*)
-?/. - c.5060A>C likely benign r.(?) p.(Glu1687Ala)
?/. - c.5119G>A VUS r.(?) p.(Gly1707Arg)
-/. - c.5138A>G benign r.(?) p.(Asp1713Gly)
?/. - c.5162A>C VUS r.(?) p.(Gln1721Pro)
?/. - c.5166C>A VUS r.(?) p.(Phe1722Leu)
?/. - c.5173+1G>T VUS r.spl? p.?
-/. - c.5173+75A>T benign r.(=) p.(=)
-/. - c.5173+208T>C benign r.(=) p.(=)
?/. - c.5183A>C VUS r.(?) p.(Asp1728Ala)
+/. - c.5263+2T>C pathogenic r.spl? p.?
-/. - c.5263+154C>G benign r.(=) p.(=)
-/. - c.5410+25T>C benign r.(=) p.(=)
?/. - c.5417G>A VUS r.(?) p.(Gly1806Asp)
?/. - c.5434G>A VUS r.(?) p.(Ala1812Thr)
-/. - c.5518C>T benign r.(?) p.(Arg1840Trp)
-?/. - c.5533G>A likely benign r.(?) p.(Gly1845Arg)
-/. - c.5642-19A>G benign r.(=) p.(=)
-/. - c.5642-9T>C benign r.(=) p.(=)
+/. - c.5750dup pathogenic r.(?) p.(Cys1918Leufs*21)
-/. - c.5767+97A>C benign r.(=) p.(=)
+/. - c.5914G>A pathogenic r.(?) p.(Glu1972Lys)
+/. - c.5917G>T pathogenic r.(?) p.(Glu1973*)
./. - c.5937_5940delinsC - r.(?) p.(Leu1981del)
-/. - c.6019+22356C>A benign r.(=) p.(=)
-/. - c.6020-149A>G benign r.(=) p.(=)
-/. - c.6020-111G>A benign r.(=) p.(=)
-?/. - c.6067G>A likely benign r.(?) p.(Ala2023Thr)
?/. - c.6071G>A VUS r.(?) p.(Gly2024Asp)
-/. - c.6169+64T>G benign r.(=) p.(=)
-/. - c.6169+112A>G benign r.(=) p.(=)
-?/. - c.6170-91A>G likely benign r.(=) p.(=)
-?/. - c.6170-90G>A likely benign r.(=) p.(=)
-?/. - c.6196C>T likely benign r.(?) p.(Arg2066Cys)
-?/. - c.6334G>A likely benign r.(?) p.(Glu2112Lys)
-/. - c.6379+38T>G benign r.(=) p.(=)
-?/. - c.6380-40C>G likely benign r.(=) p.(=)
+?/. - c.6394T>G likely pathogenic r.(?) p.(Phe2132Val)
-?/. - c.6404G>A likely benign r.(?) p.(Arg2135Gln)
-/. - c.6458C>G benign r.(?) p.(Thr2153Ser)
-/. - c.6459T>C benign r.(=) p.(=)
+/. 9 c.6499C>T - r.(?) p.(Arg2167Trp)
+?/. - c.6499C>T likely pathogenic r.(?) p.(Arg2167Trp)
+?/. - c.6537A>C likely pathogenic r.(?) p.(Glu2179Asp)
-/. - c.6578-203G>A benign r.(=) p.(=)
-/. - c.6826G>A benign r.(?) p.(Val2276Met)
?/. - c.6857C>G VUS r.(?) p.(Ser2286Cys)
-/. - c.6925+33A>G benign r.(=) p.(=)
-/. - c.6977C>T benign r.(?) p.(Thr2326Ile)
-/. - c.6977C>T benign r.(?) p.(Thr2326Ile)
-?/. - c.6989T>C likely benign r.(?) p.(Val2330Ala)
?/. - c.7013C>T VUS r.(?) p.(Thr2338Ile)
-/. - c.7056+50G>A benign r.(=) p.(=)
-/. - c.7057-177C>T benign r.(=) p.(=)
-/. - c.7057-67T>C benign r.(=) p.(=)
+/. - c.7215+2T>C pathogenic r.spl? p.?
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