RGD:329355314 Rat Genome Database

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Variant: RGD:329355314 -  Homo sapiens

RGD ID: 329355314
ClinVar ID: CV2449317
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CCZ1B  
Reference Nucleotide: T
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 7 6,863,742
GRCh38 7 6,824,111
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_198097.5:c.368A>C
NP_932765.1:p.Glu123Ala
NM_015622.6:c.368A>C
NM_198097.3:c.368A>C
More... 		03/06/2023 missense variant uncertain significance AllHighlyPenetrant

Variant Details
Variant Transcripts
Gene Symbol:CCZ1B
Accession:NM_198097
Location:EXON
Amino Acid Prediction: E to A (nonsynonymous)
Amino Acid Position: 123
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAAAAAGAGSGPWAAQEKQFPPALLSFFIYNPRFGPREGQEENKILFYHPNEVEKNEKIRNVGLCEAIVQFTRTFSPSKP
AKSLHTQKNRQFFNEPEENFWMVMVVRNPIIEKQSKDGKPVIAYQEEELLDKVYSSVLRQCYSMYKLFNGTFLKAMEDGG
VKLLKERLEKFFHRYLQTLHLQSCDLLDIFGGISFFPLDKMTYLKIQSFINRMEESLNIVKYTAFLYNDQLIWSGLEQDD
MRILYKYLTTSLFPRHIEPELAGRDSPIRAEMPGNLQHYGRFLTGPLNLNDPDAKCRFPKIFVNTDDTYEELHLIVYKAM
SAAVCFMIDASVHPTLDFCRRLDSIVGPQLTVLASDICEQFNINKRMSGSEKEPQFKFIYFNHMNLAEKSTVHMRKTPSV
SLTSVHPDLMKILGDINSDFTRVDEDEEIIVKAMSDYWVVGKKSDRRELYVILNQKNANLIEVNEEVKKLCATQFNNIFF
LD*
Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV004257446 CLINVAR
MedGen CN169374 CLINVAR
NCBI Gene CCZ1B CLINVAR