RGD:155962902 Rat Genome Database

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Variant: RGD:155962902 -  Homo sapiens

RGD ID: 155962902
ClinVar ID: CV2308208
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: TMEM255A  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 X 119,410,868
GRCh38 X 120,277,013
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001104545.2:c.424-8626A>G
NM_001104544.3:c.547A>G
NM_017938.4:c.619A>G
NC_000023.11:g.120277013T>C
More...
11/03/2022 intron variant uncertain significance AllHighlyPenetrant

Variant Details
Variant Transcripts
Gene Symbol:TMEM255A
Accession:NM_017938
Location:EXON
Amino Acid Prediction: I to V (nonsynonymous)
Amino Acid Position: 207
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MHQSLTQQRSSDMSLPDSMGAFNRRKRNSIYVTVTLLIVSVLILTVGLAATTRTQNVTVGGYYPGVILGFGSFLGIIGSN
LIENKRQMLVASIVFISFGVIAAFCCAIVDGVFAARHIDLKPLYANRCHYVPKTSQKEAEEVISSSTKNSPSTRVMRNLT
QAAREVNCPHLSREFCTPRIRGNTCFCCDLYNCGNRVEITGGYYEYVDVSSCQDIIHLYHLLWSATILNIVGLFLGIITA
AVLGGFKDMNPTLPALNCSVENTHPTVSYYAHPQVASYNTYYHSPPHLPPYSAYDFQHSGVFPSSPPSGLSDEPQSASPS
PSYMWSSSAPPRYSPPYYPPFEKPPPYSP*

Gene Symbol:TMEM255A
Accession:XM_017029619
Location:EXON
Amino Acid Prediction: I to V (nonsynonymous)
Amino Acid Position: 207
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MHQSLTQQRSSDMSLPDSMGAFNRRKRNSIYVTVTLLIVSVLILTVGLAATTRTQNVTVGGYYPGVILGFGSFLGIIGSN
LIENKRQMLVASIVFISFGVIAAFCCAIVDGVFAARHIDLKPLYANRCHYVPKTSQKEAEEVISSSTKNSPSTRVMRNLT
QAAREVNCPHLSREFCTPRIRGNTCFCCDLYNCGNRVEITGGYYEYVDVSSCQDIIHLYHLLWSATILNIVGLFLGIITA
AVLGGFKDMNPTLPALNCSVENTHPTVSYYAHPQVASYNTYYHSPPHLPPYSAYDFQGGPRDSTSRSEPTPKICDSTVEK
PFHITVKPLTEGQFGGAGDGGKR*

Gene Symbol:TMEM255A
Accession:NM_001104544
Location:EXON
Amino Acid Prediction: I to V (nonsynonymous)
Amino Acid Position: 183
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MHQSLTQQRSSDMSLPDSMGAFNRRKRNSIYVTVTLLIVSVLILTVGLAATTRTQNVTVGGYYPGVILGFGSFLGIIGSN
LIENKRQMLVASIVFISFGVIAAFCCAIVDGVFAARHIDLKPLYANRCHYVPKTSQKEAEEVNCPHLSREFCTPRIRGNT
CFCCDLYNCGNRVEITGGYYEYVDVSSCQDIIHLYHLLWSATILNIVGLFLGIITAAVLGGFKDMNPTLPALNCSVENTH
PTVSYYAHPQVASYNTYYHSPPHLPPYSAYDFQHSGVFPSSPPSGLSDEPQSASPSPSYMWSSSAPPRYSPPYYPPFEKP
PPYSP*

Gene Symbol:TMEM255A
Accession:XM_047442232
Location:INTRON

Gene Symbol:TMEM255A
Accession:NM_001104545
Location:INTRON

Gene Symbol:TMEM255A
Accession:XM_047442231
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV004164709 CLINVAR
MedGen CN169374 CLINVAR
NCBI Gene TMEM255A CLINVAR