RGD:329376292 Rat Genome Database

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Variant: RGD:329376292 -  Homo sapiens

RGD ID: 329376292
ClinVar ID: CV2438078
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: TMEM208  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 16 67,262,994
GRCh38 16 67,229,091
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001318217.2:c.290G>A
NM_014187.4:c.500G>A
NG_029672.1:g.23432C>T
NC_000016.10:g.67229091G>A
More... 		01/06/2023 missense variant uncertain significance AllHighlyPenetrant

Variant Details
Variant Transcripts
Gene Symbol:TMEM208
Accession:NM_014187
Location:EXON
Amino Acid Prediction: R to Q (nonsynonymous)
Amino Acid Position: 167
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAPKGKVGTRGKKQIFEENRETLKFYLRIILGANAIYCLVTLVFFYSSASFWAWLALGFSLAVYGASYHSMSSMARAAFS
EDGALMDGGMDLNMEQGMAEHLKDVILLTAIVQVLSCFSLYVWSFWLLAPGRALYLLWVNVLGPWFTADSGTPAPEHNEK
RQRRQEQRQMKRL*

Gene Symbol:TMEM208
Accession:NM_001318217
Location:EXON
Amino Acid Prediction: R to Q (nonsynonymous)
Amino Acid Position: 97
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSSMARAAFSEDGALMDGGMDLNMEQGMAEHLKDVILLTAIVQVLSCFSLYVWSFWLLAPGRALYLLWVNVLGPWFTADS
GTPAPEHNEKRQRRQEQRQMKRL*

Gene Symbol:TMEM208
Accession:NR_134524
Location:EXON;NON-CODING

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV004256866 CLINVAR
MedGen CN169374 CLINVAR
NCBI Gene TMEM208 CLINVAR
OMIM 620781 CLINVAR