RGD:156189048 Rat Genome Database

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Variant: RGD:156189048 -  Homo sapiens

RGD ID: 156189048
ClinVar ID: CV2395600
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CLCA1  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 1 86,934,763
GRCh38 1 86,469,080
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NC_000001.11:g.86469080G>A
NM_001285.4:c.109G>A
NC_000001.10:g.86934763G>A
NM_001285.3:c.109G>A
More... 		09/16/2021 missense variant likely benign AllHighlyPenetrant

Variant Details
Variant Transcripts
Gene Symbol:CLCA1
Accession:NM_001285
Location:EXON
Amino Acid Prediction: V to I (nonsynonymous)
Amino Acid Position: 37
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGPFKSSVFILILHLLEGALSNSLIQLNNNGYEGIVIAIDPNVPEDETLIQQIKDMVTQASLYLLEATGKRFYFKNVAIL
IPETWKTKADYVRPKLETYKNADVLVAESTPPGNDEPYTEQMGNCGEKGERIHLTPDFIAGKKLAEYGPQGRAFVHEWAH
LRWGVFDEYNNDEKFYLSNGRIQAVRCSAGITGTNVVKKCQGGSCYTKRCTFNKVTGLYEKGCEFVLQSRQTEKASIMFA
QHVDSIVEFCTEQNHNKEAPNKQNQKCNLRSTWEVIRDSEDFKKTTPMTTQPPNPTFSLLQIGQRIVCLVLDKSGSMATG
NRLNRLNQAGQLFLLQTVELGSWVGMVTFDSAAHVQNELIQINSGSDRDTLAKRLPAAASGGTSICSGLRSAFTVIRKKY
PTDGSEIVLLTDGEDNTISGCFNEVKQSGAIIHTVALGPSAAQELEELSKMTGGLQTYASDQVQNNGLIDAFGALSSGNG
AVSQRSIQLESKGLTLQNSQWMNGTVIVDSTVGKDTLFLITWTMQPPQILLWDPSGQKQGGFVVDKNTKMAYLQIPGIAK
VGTWKYSLQASSQTLTLTVTSRASNATLPPITVTSKTNKDTSKFPSPLVVYANIRQGASPILRASVTALIESVNGKTVTL
ELLDNGAGADATKDDGVYSRYFTTYDTNGRYSVKVRALGGVNAARRRVIPQQSGALYIPGWIENDEIQWNPPRPEINKDD
VQHKQVCFSRTSSGGSFVASDVPNAPIPDLFPPGQITDLKAEIHGGSLINLTWTAPGDDYDHGTAHKYIIRISTSILDLR
DKFNESLQVNTTALIPKEANSEEVFLFKPENITFENGTDLFIAIQAVDKVDLKSEISNIARVSLFIPPQTPPETPSPDET
SAPCPNIHINSTIPGIHILKIMWKWIGELQLSIA*
Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV004241449 CLINVAR
MedGen CN169374 CLINVAR
NCBI Gene CLCA1 CLINVAR
OMIM 603906 CLINVAR