RGD:405695682 Rat Genome Database

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Variant: RGD:405695682 -  Homo sapiens

RGD ID: 405695682
ClinVar ID: CV3353808
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: ZNF175  
Reference Nucleotide: G
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 19 52,084,729
GRCh38 19 51,581,476
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_007147.4:c.158G>C
NC_000019.10:g.51581476G>C
NC_000019.9:g.52084729G>C
NM_007147.2:c.158G>C
More... 		10/25/2023 missense variant uncertain significance AllHighlyPenetrant

Variant Details
Variant Transcripts
Gene Symbol:ZNF175
Accession:NM_007147
Location:EXON
Amino Acid Prediction: R to P (nonsynonymous)
Amino Acid Position: 53
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MPADVNLSQKPQVLGPEKQDGSCEASVSFEDVTVDFSREEWQQLDPAQRCLYPDVMLELYSHLFAVGYHIPNPEVIFRML
KEKEPRVEEAEVSHQRCQEREFGLEIPQKEISKKASFQKDMVGEFTRDGSWCSILEELRLDADRTKKDEQNQIQPMSHSA
FFNKKTLNTESNCEYKDPGKMIRTRPHLASSQKQPQKCCLFTESLKLNLEVNGQNESNDTEQLDDVVGSGQLFSHSSSDA
CSKNIHTGETFCKGNQCRKVCGHKQSLKQHQIHTQKKPDGCSECGGSFTQKSHLFAQQRIHSVGNLHECGKCGKAFMPQL
KLSVYLTDHTGDIPCICKECGKVFIQRSELLTHQKTHTRKKPYKCHDCGKAFFQMLSLFRHQRTHSREKLYECSECGKGF
SQNSTLIIHQKIHTGERQYACSECGKAFTQKSTLSLHQRIHSGQKSYVCIECGQAFIQKAHLIVHQRSHTGEKPYQCHNC
GKSFISKSQLDIHHRIHTGEKPYECSDCGKTFTQKSHLNIHQKIHTGERHHVCSECGKAFNQKSILSMHQRIHTGEKPYK
CSECGKAFTSKSQFKEHQRIHTGEKPYVCTECGKAFNGRSNFHKHQITHTRERPFVCYKCGKAFVQKSELITHQRTHMGE
KPYECLDCGKSFSKKPQLKVHQRIHTGERPYVCSECGKAFNNRSNFNKHQTTHTRDKSYKCSYSVKGFTKQ*

Gene Symbol:ZNF175
Accession:NR_136208
Location:INTRON;NON-CODING

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV004491554 CLINVAR
MedGen CN169374 CLINVAR
NCBI Gene ZNF175 CLINVAR
OMIM 601139 CLINVAR