RGD:156003753 Rat Genome Database

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Variant: RGD:156003753 -  Homo sapiens

RGD ID: 156003753
ClinVar ID: CV2290064
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: TMEM129  
Reference Nucleotide: G
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 4 1,720,027
GRCh38 4 1,718,300
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001127266.2:c.532C>G
NM_138385.4:c.532C>G
LRG_1367:g.1811G>C
NG_064424.1:g.1811G>C
More... 		08/01/2022 missense variant uncertain significance AllHighlyPenetrant

Variant Details
Variant Transcripts
Gene Symbol:TMEM129
Accession:NM_138385
Location:EXON
Amino Acid Prediction: R to G (nonsynonymous)
Amino Acid Position: 178
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDSPEVTFTLAYLVFAVCFVFTPNEFHAAGLTVQNLLSGWLGSEDAAFVPFHLRRTAATLLCHSLLPLGYYVGMCLAASE
KRLHALSQAPEAWRLFLLLAVTLPSIACILIYYWSRDRWACHPLARTLALYALPQSGWQAVASSVNTEFRRIDKFATGAP
GARVIVTDTWVMKVTTYGVHVAQQQDVHLTVTESRQHELSPDSNLPVQLLTIRVASTNPAVQAFDIWSWRPA*

Gene Symbol:TMEM129
Accession:NM_001127266
Location:EXON
Amino Acid Prediction: R to G (nonsynonymous)
Amino Acid Position: 178
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDSPEVTFTLAYLVFAVCFVFTPNEFHAAGLTVQNLLSGWLGSEDAAFVPFHLRRTAATLLCHSLLPLGYYVGMCLAASE
KRLHALSQAPEAWRLFLLLAVTLPSIACILIYYWSRDRWACHPLARTLALYALPQSGWQAVASSVNTEFRRIDKFATGAP
GARVIVTDTWVMKVTTYGVHVAQQQDVHLTVTESRQHELSPDSNLPVQLLTIRVASTNPAVQAFDIWLNSTEYGELCEKL
RAPIRRAAHVVIHQSLGDLFLETFASLVEVNPAYSVPSSQELEACIGCMQTRASVKLVKTCQEAATGECQQCYCRPMWCL
TCMGKWFASRQDPLRPDTWLASRVPCPTCRARFCILDVCTVR*
Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV004152747 CLINVAR
MedGen CN169374 CLINVAR
NCBI Gene TMEM129 CLINVAR
OMIM 615975 CLINVAR