Transcript #00014558

Transcript name nidogen 1
Gene name NID1 (nidogen 1)
Chromosome 1
Transcript - NCBI ID NM_002508.2
Transcript - Ensembl ID -
Protein - NCBI ID NP_002499.2
Protein - Ensembl ID -
Protein - Uniprot ID -
Exon/intron information Exon/intron information table: HTML, Txt
Remarks -


Variants

26 entries on 1 page. Showing entries 1 - 26.
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Affects function     

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
-?/. - c.159C>T likely benign r.(?) p.(=)
-?/. - c.478G>A likely benign r.(?) p.(Val160Met)
-?/. - c.933G>A likely benign r.(?) p.(=)
-?/. - c.1007G>A likely benign r.(?) p.(Arg336Gln)
-/. - c.1160G>A benign r.(?) p.(Arg387His)
+/? ? c.1162C>T - r.(?) p.(Gln388*)
?/. - c.1166C>T VUS r.(?) p.(Thr389Met)
-?/. - c.1200C>T likely benign r.(?) p.(=)
?/. - c.1223C>T VUS r.(?) p.(Thr408Met)
?/. - c.1670C>T VUS r.(?) p.(Pro557Leu)
?/. - c.2126A>G VUS r.(?) p.(Tyr709Cys)
-/. - c.2204G>A benign r.(?) p.(Arg735His)
-?/. - c.2247G>A likely benign r.(?) p.(=)
-?/. - c.2270G>A likely benign r.(?) p.(Arg757His)
?/. - c.2282A>G VUS r.(?) p.(Tyr761Cys)
-?/. - c.2405-8T>C likely benign r.(=) p.(=)
-?/. - c.2568T>C likely benign r.(?) p.(=)
-/. - c.2667C>T benign r.(?) p.(=)
-?/. - c.2808C>T likely benign r.(?) p.(=)
-?/. - c.2908A>G likely benign r.(?) p.(Lys970Glu)
?/. - c.2947C>A VUS r.(?) p.(Leu983Met)
?/. - c.3231C>A VUS r.(?) p.(Asn1077Lys)
+/. - c.3385+1G>A likely pathogenic (recessive) r.spl p.?
-?/. - c.3510-4G>A likely benign r.spl? p.?
?/. - c.3599C>T VUS r.(?) p.(Thr1200Met)
-/. - c.3677C>T benign r.(?) p.(Thr1226Ile)
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