RGD:405695706 Rat Genome Database

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Variant: RGD:405695706 -  Homo sapiens

RGD ID: 405695706
ClinVar ID: CV3353812
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: ZNF175  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 19 52,091,559
GRCh38 19 51,588,306
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.1975A>G
NC_000019.10:g.51588306A>G
NC_000019.9:g.52091559A>G
NM_007147.2:c.1975A>G
More... 		01/24/2024 missense variant uncertain significance AllHighlyPenetrant

Variant Details
Variant Transcripts
Gene Symbol:ZNF175
Accession:NM_007147
Location:EXON
Amino Acid Prediction: K to E (nonsynonymous)
Amino Acid Position: 659
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MPADVNLSQKPQVLGPEKQDGSCEASVSFEDVTVDFSREEWQQLDPAQRCLYRDVMLELYSHLFAVGYHIPNPEVIFRML
KEKEPRVEEAEVSHQRCQEREFGLEIPQKEISKKASFQKDMVGEFTRDGSWCSILEELRLDADRTKKDEQNQIQPMSHSA
FFNKKTLNTESNCEYKDPGKMIRTRPHLASSQKQPQKCCLFTESLKLNLEVNGQNESNDTEQLDDVVGSGQLFSHSSSDA
CSKNIHTGETFCKGNQCRKVCGHKQSLKQHQIHTQKKPDGCSECGGSFTQKSHLFAQQRIHSVGNLHECGKCGKAFMPQL
KLSVYLTDHTGDIPCICKECGKVFIQRSELLTHQKTHTRKKPYKCHDCGKAFFQMLSLFRHQRTHSREKLYECSECGKGF
SQNSTLIIHQKIHTGERQYACSECGKAFTQKSTLSLHQRIHSGQKSYVCIECGQAFIQKAHLIVHQRSHTGEKPYQCHNC
GKSFISKSQLDIHHRIHTGEKPYECSDCGKTFTQKSHLNIHQKIHTGERHHVCSECGKAFNQKSILSMHQRIHTGEKPYK
CSECGKAFTSKSQFKEHQRIHTGEKPYVCTECGKAFNGRSNFHKHQITHTRERPFVCYKCGKAFVQKSELITHQRTHMGE
KPYECLDCGKSFSKKPQLEVHQRIHTGERPYVCSECGKAFNNRSNFNKHQTTHTRDKSYKCSYSVKGFTKQ*

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

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV004491558 CLINVAR
MedGen CN169374 CLINVAR
NCBI Gene ZNF175 CLINVAR
OMIM 601139 CLINVAR