Transcript #00000625

Transcript name transcript variant 2
Gene name AMMECR1 (Alport syndrome, mental retardation, midface hypoplasia and elliptocytosis chromosomal region gene 1)
Chromosome X
Transcript - NCBI ID NM_001025580.1
Transcript - Ensembl ID -
Protein - NCBI ID NP_001020751.1
Protein - Ensembl ID -
Protein - Uniprot ID -
Remarks -


Variants

35 entries on 1 page. Showing entries 1 - 35.
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Affects function     

AscendingDNA change (cDNA)     

RNA change     

Protein     
?/? c.87C>T r.(=) p.(=)
?/? c.91_93del r.(?) p.(Ser31del)
?/? c.91_93dup r.(?) p.(Ser31dup)
?/? c.162C>T r.(=) p.(=)
?/? c.219C>A r.(=) p.(=)
?/? c.220_221insC r.(?) p.(Gln74Profs*88)
?/? c.240_242del r.(?) p.(Gly82del)
?/? c.269G>A r.(?) p.(Ser90Asn)
?/? c.283A>T r.(?) p.(Thr95Ser)
?/? c.344C>T r.(?) p.(Ser115Leu)
?/? c.369G>T r.(?) p.(Lys123Asn)
?/? c.473+29C>T r.(=) p.(=)
?/? c.473+45G>C r.(=) p.(=)
?/? c.474-48005A>G r.(=) p.(=)
?/? c.474-47938G>A r.(=) p.(=)
?/? c.474-47810del r.(=) p.(=)
?/? c.474-47810dup r.(=) p.(=)
?/? c.474-8451_474-8447del r.(=) p.(=)
?/? c.474-8433T>C r.(=) p.(=)
?/? c.474-8413C>T N/A N/A
?/? c.474-43T>C r.(=) p.(=)
?/? c.502A>G r.(?) p.(Met168Val)
?/? c.508A>G r.(?) p.(Arg170Gly)
?/? c.523C>T r.(?) p.(Arg175Trp)
?/? c.639A>G r.(=) p.(=)
?/? c.680-26T>C r.(=) p.(=)
?/? c.711A>G r.(=) p.(=)
?/? c.776+43T>A r.(=) p.(=)
?/? c.776+44G>T r.(=) p.(=)
?/? c.777-15C>T r.(=) p.(=)
?/? c.820G>A r.(?) p.(Ala274Thr)
?/? c.849T>C r.(=) p.(=)
?/? c.854T>C r.(?) p.(Ile285Thr)
?/? c.*3C>A r.(=) p.(=)
?/? c.*23C>T r.(=) p.(=)
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