RGD:156248375 Rat Genome Database

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Variant: RGD:156248375 -  Homo sapiens

RGD ID: 156248375
ClinVar ID: CV2263973
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: TMEM129  
Reference Nucleotide: T
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 4 1,719,954
GRCh38 4 1,718,227
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.605A>T
NM_138385.4:c.605A>T
LRG_1367:g.1738T>A
NG_064424.1:g.1738T>A
More... 		04/07/2022 missense variant uncertain significance AllHighlyPenetrant

Variant Details
Variant Transcripts
Gene Symbol:TMEM129
Accession:NM_138385
Location:EXON
Amino Acid Prediction: D to V (nonsynonymous)
Amino Acid Position: 202
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDSPEVTFTLAYLVFAVCFVFTPNEFHAAGLTVQNLLSGWLGSEDAAFVPFHLRRTAATLLCHSLLPLGYYVGMCLAASE
KRLHALSQAPEAWRLFLLLAVTLPSIACILIYYWSRDRWACHPLARTLALYALPQSGWQAVASSVNTEFRRIDKFATGAP
GARVIVTDTWVMKVTTYRVHVAQQQDVHLTVTESRQHELSPVSNLPVQLLTIRVASTNPAVQAFDIWSWRPA*

Gene Symbol:TMEM129
Accession:NM_001127266
Location:EXON
Amino Acid Prediction: D to V (nonsynonymous)
Amino Acid Position: 202
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDSPEVTFTLAYLVFAVCFVFTPNEFHAAGLTVQNLLSGWLGSEDAAFVPFHLRRTAATLLCHSLLPLGYYVGMCLAASE
KRLHALSQAPEAWRLFLLLAVTLPSIACILIYYWSRDRWACHPLARTLALYALPQSGWQAVASSVNTEFRRIDKFATGAP
GARVIVTDTWVMKVTTYRVHVAQQQDVHLTVTESRQHELSPVSNLPVQLLTIRVASTNPAVQAFDIWLNSTEYGELCEKL
RAPIRRAAHVVIHQSLGDLFLETFASLVEVNPAYSVPSSQELEACIGCMQTRASVKLVKTCQEAATGECQQCYCRPMWCL
TCMGKWFASRQDPLRPDTWLASRVPCPTCRARFCILDVCTVR*
Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV004138003 CLINVAR
MedGen CN169374 CLINVAR
NCBI Gene TMEM129 CLINVAR
OMIM 615975 CLINVAR