RGD:156081286 Rat Genome Database

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Variant: RGD:156081286 -  Homo sapiens

RGD ID: 156081286
ClinVar ID: CV2301070
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: TMEM255A  
Reference Nucleotide: A
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 X 119,425,157
GRCh38 X 120,291,302
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_017938.3:c.303T>G
NP_001098014.1:p.Ile101Met
NP_001098015.1:p.Ile101Met
NP_060408.3:p.Ile101Met
More...
08/31/2022 missense variant uncertain significance AllHighlyPenetrant

Variant Details
Variant Transcripts
Gene Symbol:TMEM255A
Accession:NM_017938
Location:EXON
Amino Acid Prediction: I to M (nonsynonymous)
Amino Acid Position: 101
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MHQSLTQQRSSDMSLPDSMGAFNRRKRNSIYVTVTLLIVSVLILTVGLAATTRTQNVTVGGYYPGVILGFGSFLGIIGSN
LIENKRQMLVASIVFISFGVMAAFCCAIVDGVFAARHIDLKPLYANRCHYVPKTSQKEAEEVISSSTKNSPSTRVMRNLT
QAAREVNCPHLSREFCTPRIRGNTCFCCDLYNCGNRVEITGGYYEYIDVSSCQDIIHLYHLLWSATILNIVGLFLGIITA
AVLGGFKDMNPTLPALNCSVENTHPTVSYYAHPQVASYNTYYHSPPHLPPYSAYDFQHSGVFPSSPPSGLSDEPQSASPS
PSYMWSSSAPPRYSPPYYPPFEKPPPYSP*

Gene Symbol:TMEM255A
Accession:XM_017029619
Location:EXON
Amino Acid Prediction: I to M (nonsynonymous)
Amino Acid Position: 101
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MHQSLTQQRSSDMSLPDSMGAFNRRKRNSIYVTVTLLIVSVLILTVGLAATTRTQNVTVGGYYPGVILGFGSFLGIIGSN
LIENKRQMLVASIVFISFGVMAAFCCAIVDGVFAARHIDLKPLYANRCHYVPKTSQKEAEEVISSSTKNSPSTRVMRNLT
QAAREVNCPHLSREFCTPRIRGNTCFCCDLYNCGNRVEITGGYYEYIDVSSCQDIIHLYHLLWSATILNIVGLFLGIITA
AVLGGFKDMNPTLPALNCSVENTHPTVSYYAHPQVASYNTYYHSPPHLPPYSAYDFQGGPRDSTSRSEPTPKICDSTVEK
PFHITVKPLTEGQFGGAGDGGKR*

Gene Symbol:TMEM255A
Accession:NM_001104545
Location:EXON
Amino Acid Prediction: I to M (nonsynonymous)
Amino Acid Position: 101
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MHQSLTQQRSSDMSLPDSMGAFNRRKRNSIYVTVTLLIVSVLILTVGLAATTRTQNVTVGGYYPGVILGFGSFLGIIGSN
LIENKRQMLVASIVFISFGVMAAFCCAIVDGVFAARHIDLKPLYANRCHYVPKTSQKEAEENPTLPALNCSVENTHPTVS
YYAHPQVASYNTYYHSPPHLPPYSAYDFQHSGVFPSSPPSGLSDEPQSASPSPSYMWSSSAPPRYSPPYYPPFEKPPPYS
P*

Gene Symbol:TMEM255A
Accession:XM_047442231
Location:EXON
Amino Acid Prediction: I to M (nonsynonymous)
Amino Acid Position: 101
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MHQSLTQQRSSDMSLPDSMGAFNRRKRNSIYVTVTLLIVSVLILTVGLAATTRTQNVTVGGYYPGVILGFGSFLGIIGSN
LIENKRQMLVASIVFISFGVMAAFCCAIVDGVFAARHIDLKPLYANRCHYVPKTSQKEAEEVISSSTKNSPSTRVMRNLT
QAAREVNCPHLSREFCTPRIRGNTCFCCDLYNCGKTQLSQH*

Gene Symbol:TMEM255A
Accession:NM_001104544
Location:EXON
Amino Acid Prediction: I to M (nonsynonymous)
Amino Acid Position: 101
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MHQSLTQQRSSDMSLPDSMGAFNRRKRNSIYVTVTLLIVSVLILTVGLAATTRTQNVTVGGYYPGVILGFGSFLGIIGSN
LIENKRQMLVASIVFISFGVMAAFCCAIVDGVFAARHIDLKPLYANRCHYVPKTSQKEAEEVNCPHLSREFCTPRIRGNT
CFCCDLYNCGNRVEITGGYYEYIDVSSCQDIIHLYHLLWSATILNIVGLFLGIITAAVLGGFKDMNPTLPALNCSVENTH
PTVSYYAHPQVASYNTYYHSPPHLPPYSAYDFQHSGVFPSSPPSGLSDEPQSASPSPSYMWSSSAPPRYSPPYYPPFEKP
PPYSP*

Gene Symbol:TMEM255A
Accession:XM_047442232
Location:EXON
Amino Acid Prediction: I to M (nonsynonymous)
Amino Acid Position: 101
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MHQSLTQQRSSDMSLPDSMGAFNRRKRNSIYVTVTLLIVSVLILTVGLAATTRTQNVTVGGYYPGVILGFGSFLGIIGSN
LIENKRQMLVASIVFISFGVMAAFCCAIVDGVFAARHIDLKPLYANRCHYVPKTSQKEAEEVNCPHLSREFCTPRIRGNT
CFCCDLYNCGKTQLSQH*

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV004158216 CLINVAR
MedGen CN169374 CLINVAR
NCBI Gene TMEM255A CLINVAR