Transcript #00005470

Transcript name collagen, type V, alpha 3
Gene name COL5A3 (collagen, type V, alpha 3)
Chromosome 19
Transcript - NCBI ID NM_015719.3
Transcript - Ensembl ID -
Protein - NCBI ID NP_056534.2
Protein - Ensembl ID -
Protein - Uniprot ID -
Remarks -


Variants

15 entries on 1 page. Showing entries 1 - 15.
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Affects function     

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
-/. - c.453C>A benign r.(=) p.(=)
-/. - c.676A>T benign r.(?) p.(Asn226Tyr)
-/. - c.838G>C benign r.(?) p.(Ala280Pro)
-/. - c.964A>G benign r.(?) p.(Arg322Gly)
-/. - c.1893+4T>C benign r.spl? p.?
-/. - c.2047-19G>T benign r.(=) p.(=)
-/. - c.2146-10del benign r.(=) p.(=)
-/. - c.2146-8_2146-7dup benign r.spl? p.?
-?/. - c.2807C>T likely benign r.(?) p.(Pro936Leu)
-/. - c.3006C>T benign r.(=) p.(=)
-/. - c.3125G>C benign r.(?) p.(Arg1042Pro)
-/. - c.3612+10G>A benign r.(=) p.(=)
-/. - c.3620G>C benign r.(?) p.(Arg1207Pro)
-/. - c.4282G>A benign r.(?) p.(Val1428Met)
-/. - c.4462G>C benign r.(?) p.(Ala1488Pro)
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