RGD:401748780 Rat Genome Database

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Variant: RGD:401748780 -  Homo sapiens

RGD ID: 401748780
ClinVar ID: CV2708345
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: HOXB7  LOC127887217  
Reference Nucleotide: C
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 17 46,688,077
GRCh38 17 48,610,715
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_004502.4:c.204G>C
NG_136882.1:g.106C>G
NG_136881.1:g.927C>G
NC_000017.11:g.48610715C>G
More... 		04/20/2023 missense variant uncertain significance AllHighlyPenetrant

Variant Details
Variant Transcripts
Gene Symbol:HOXB7
Accession:NM_004502
Location:EXON
Amino Acid Prediction: Q to H (nonsynonymous)
Amino Acid Position: 68
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSSLYYANTLFSKYPASSSVFATGAFPEQTSCAFASNPQRPGYGAGSGASFAASMQGLYPGGGGMAGHSAAGVYAAGYGL
EPSSFNMHCAPFEQNLSGVCPGDSAKAAGAKEQRDSDLAAESNFRIYPWMRSSGTDRKRGRQTYTRYQTLELEKEFHYNR
YLTRRRRIEIAHTLCLTERQIKIWFQNRRMKWKKENKTAGPGTTGQDRAEAEEEEEE*
Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV004313465 CLINVAR
MedGen CN169374 CLINVAR
NCBI Gene HOXB7 CLINVAR
OMIM 142962 CLINVAR