RGD:156302135 Rat Genome Database

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Variant: RGD:156302135 -  Homo sapiens

RGD ID: 156302135
ClinVar ID: CV2319484
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: FAM177A1  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 14 35,522,490
GRCh38 14 35,053,284
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001079519.1:c.103A>G
NM_001289022.3:c.103A>G
NM_173607.5:c.172A>G
NG_054633.1:g.13378A>G
More... 		12/27/2022 missense variant uncertain significance AllHighlyPenetrant

Variant Details
Variant Transcripts
Gene Symbol:FAM177A1
Accession:NM_001079519
Location:EXON
Amino Acid Prediction: N to D (nonsynonymous)
Amino Acid Position: 35
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDQEPVGGVERGEAVAASGAAAAAAFGESAGQMSDERGFENVELGVIGKKKKVPRRVIHFVSGETMEEYSTDEDEVDGLE
KKDVLPTVDPTKLTWGPYLWFYMLRAATSTLSVCDFLGEKIASVLGISTPKYQYAIDEYYRMKKEEEEEEEENRMSEEAE
KQYQQNKLQTDSIVQTDQPETVISSSFVNVNFEMEGDSEVIMESKQNPVSVPP*

Gene Symbol:FAM177A1
Accession:NM_001289022
Location:EXON
Amino Acid Prediction: N to D (nonsynonymous)
Amino Acid Position: 35
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDQEPVGGVERGEAVAASGAAAAAAFGESAGQMSDERGFENVELGVIGKKKKVPRRVIHFVSGETMEEYSTDEDEVDGLE
KKDVLPTVDPTKLTWGPYLWFYMLRAATSTLSVCDFLGEKIASVLGISTPKYQYAIDEYYRMKKEEEEEEEENRMSEEAE
KQYQQNKLQTDSIVQTDQPETVISSSFVNVNFEMEGDSEVIMESKQNPVSVPP*

Gene Symbol:FAM177A1
Accession:NM_173607
Location:EXON
Amino Acid Prediction: N to D (nonsynonymous)
Amino Acid Position: 58
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MEVGLPAITLFLTSASSPVVATTMDQEPVGGVERGEAVAASGAAAAAAFGESAGQMSDERGFENVELGVIGKKKKVPRRV
IHFVSGETMEEYSTDEDEVDGLEKKDVLPTVDPTKLTWGPYLWFYMLRAATSTLSVCDFLGEKIASVLGISTPKYQYAID
EYYRMKKEEEEEEEENRMSEEAEKQYQQNKLQTDSIVQTDQPETVISSSFVNVNFEMEGDSEVIMESKQNPVSVPP*
Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV004185061 CLINVAR
MedGen CN169374 CLINVAR
NCBI Gene FAM177A1 CLINVAR
OMIM 619181 CLINVAR