RGD:156166593 Rat Genome Database

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Variant: RGD:156166593 -  Homo sapiens

RGD ID: 156166593
ClinVar ID: CV2319950
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: ZFAND6  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 15 80,415,046
GRCh38 15 80,122,704
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NP_001229844.1:p.Val90Ile
NP_001229845.1:p.Val90Ile
NP_001229847.1:p.Val90Ile
NP_061879.2:p.Val90Ile
More... 		11/18/2022 intron variant uncertain significance AllHighlyPenetrant

Variant Details
Variant Transcripts
Gene Symbol:ZFAND6
Accession:NM_019006
Location:EXON
Amino Acid Prediction: V to I (nonsynonymous)
Amino Acid Position: 90
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAQETNHSQVPMLCSTGCGFYGNPRTNGMCSVCYKEHLQRQNSSNGRISPPATSVSSLSESLPVQCTDGSVPEAQSALDS
TSSSMQPSPISNQSLLSESVASSQLDSTSVDKAVPETEDVQASVSDTAQQPSEEQSKSLEKPKQKKNRCFMCRKKVGLTG
FECRCGNVYCGVHRYSDVHNCSYNYKADAAEKIRKENPVVVGEKIQKI*

Gene Symbol:ZFAND6
Accession:NM_001242912
Location:EXON
Amino Acid Prediction: V to I (nonsynonymous)
Amino Acid Position: 90
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAQETNHSQVPMLCSTGCGFYGNPRTNGMCSVCYKEHLQRQNSSNGRISPPATSVSSLSESLPVQCTDGSVPEAQSALDS
TSSSMQPSPISNQSLLSESVASSQLDSTSVDKAVPETEDVQASVSDTAQQPSEEQSKSLEKPKQKKNRCFMCRKKVGLTG
FECRCGNVYCGVHRYSDVHNCSYNYKADAAEKIRKENPVVVGEKIQKI*

Gene Symbol:ZFAND6
Accession:NM_001242917
Location:EXON
Amino Acid Prediction: V to I (nonsynonymous)
Amino Acid Position: 78
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAQETNHSQVPMLCSTGCGFYGNPRTNGMCSVCYKEHLQRQNSSNGRISPPVQCTDGSVPEAQSALDSTSSSMQPSPISN
QSLLSESVASSQLDSTSVDKAVPETEDVQASVSDTAQQPSEEQSKSLEKPKQKKNRCFMCRKKVGLTGFECRCGNVYCGV
HRYSDVHNCSYNYKADAAEKIRKENPVVVGEKIQKI*

Gene Symbol:ZFAND6
Accession:NM_001242911
Location:EXON
Amino Acid Prediction: V to I (nonsynonymous)
Amino Acid Position: 90
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAQETNHSQVPMLCSTGCGFYGNPRTNGMCSVCYKEHLQRQNSSNGRISPPATSVSSLSESLPVQCTDGSVPEAQSALDS
TSSSMQPSPISNQSLLSESVASSQLDSTSVDKAVPETEDVQASVSDTAQQPSEEQSKSLEKPKQKKNRCFMCRKKVGLTG
FECRCGNVYCGVHRYSDVHNCSYNYKADAAEKIRKENPVVVGEKIQKI*

Gene Symbol:ZFAND6
Accession:NM_001242918
Location:EXON
Amino Acid Prediction: V to I (nonsynonymous)
Amino Acid Position: 90
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAQETNHSQVPMLCSTGCGFYGNPRTNGMCSVCYKEHLQRQNSSNGRISPPATSVSSLSESLPVQCTDGSVPEAQSALDS
TSSSMQPSPISNQSLLSESVASSQLDSTSVDKAVPETEDVQGFECRCGNVYCGVHRYSDVHNCSYNYKADAAEKIRKENP
VVVGEKIQKI*

Gene Symbol:ZFAND6
Accession:NM_001242913
Location:EXON
Amino Acid Prediction: V to I (nonsynonymous)
Amino Acid Position: 90
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAQETNHSQVPMLCSTGCGFYGNPRTNGMCSVCYKEHLQRQNSSNGRISPPATSVSSLSESLPVQCTDGSVPEAQSALDS
TSSSMQPSPISNQSLLSESVASSQLDSTSVDKAVPETEDVQASVSDTAQQPSEEQSKSLEKPKQKKNRCFMCRKKVGLTG
FECRCGNVYCGVHRYSDVHNCSYNYKADAAEKIRKENPVVVGEKIQKI*

Gene Symbol:ZFAND6
Accession:NM_001242914
Location:EXON
Amino Acid Prediction: V to I (nonsynonymous)
Amino Acid Position: 90
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAQETNHSQVPMLCSTGCGFYGNPRTNGMCSVCYKEHLQRQNSSNGRISPPATSVSSLSESLPVQCTDGSVPEAQSALDS
TSSSMQPSPISNQSLLSESVASSQLDSTSVDKAVPETEDVQASVSDTAQQPSEEQSKSLEKPKQKKNRCFMCRKKVGLTG
FECRCGNVYCGVHRYSDVHNCSYNYKADAAEKIRKENPVVVGEKIQKI*

Gene Symbol:ZFAND6
Accession:NM_001242916
Location:EXON
Amino Acid Prediction: V to I (nonsynonymous)
Amino Acid Position: 90
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAQETNHSQVPMLCSTGCGFYGNPRTNGMCSVCYKEHLQRQNSSNGRISPPATSVSSLSESLPVQCTDGSVPEAQSALDS
TSSSMQPSPISNQSLLSESVASSQLDSTSVDKAVPETEDVQASVSDTAQQPSEEQSKSLEKPKQKKNRCFMCRKKVGLTG
FECRCGNVYCGVHRYSDVHNCSYNYKADAAEKIRKENPVVVGEKIQKI*

Gene Symbol:ZFAND6
Accession:NM_001242915
Location:EXON
Amino Acid Prediction: V to I (nonsynonymous)
Amino Acid Position: 90
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAQETNHSQVPMLCSTGCGFYGNPRTNGMCSVCYKEHLQRQNSSNGRISPPATSVSSLSESLPVQCTDGSVPEAQSALDS
TSSSMQPSPISNQSLLSESVASSQLDSTSVDKAVPETEDVQASVSDTAQQPSEEQSKSLEKPKQKKNRCFMCRKKVGLTG
FECRCGNVYCGVHRYSDVHNCSYNYKADAAEKIRKENPVVVGEKIQKI*

Gene Symbol:ZFAND6
Accession:XM_011521684
Location:EXON
Amino Acid Prediction: V to I (nonsynonymous)
Amino Acid Position: 90
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAQETNHSQVPMLCSTGCGFYGNPRTNGMCSVCYKEHLQRQNSSNGRISPPATSVSSLSESLPVQCTDGSVPEAQSALDS
TSSSMQPSPISNQSLLSESVASSQLDSTSVDKAVPETEDVQASVSDTAQQPSEEQSKSLEKPKQKKNRCFMCRKKVGLTG
FECRCGNVYCGVHRYSDVHNCSYNYKADAAEKIRKENPVVVGEKIQKI*

Gene Symbol:ZFAND6
Accession:XM_024449956
Location:EXON
Amino Acid Prediction: V to I (nonsynonymous)
Amino Acid Position: 90
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAQETNHSQVPMLCSTGCGFYGNPRTNGMCSVCYKEHLQRQNSSNGRISPPATSVSSLSESLPVQCTDGSVPEAQSALDS
TSSSMQPSPISNQSLLSESVASSQLDSTSVDKAVPETEDVQASVSDTAQQPSEEQSKSLEKPKQKKNRCFMCRKKVGLTG
FECRCGNVYCGVHRYSDVHNCSYNYKADAAEKIRKENPVVVGEKIQKI*

Gene Symbol:ZFAND6
Accession:XM_024449963
Location:EXON
Amino Acid Prediction: V to I (nonsynonymous)
Amino Acid Position: 90
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAQETNHSQVPMLCSTGCGFYGNPRTNGMCSVCYKEHLQRQNSSNGRISPPATSVSSLSESLPVQCTDGSVPEAQSALDS
TSSSMQPSPISNQSLLSESVASSQLDSTSVDKAVPETEDVQASVSDTAQQPSEEQSKSLEKPKQKKNRCFMCRKKVGLTG
FECRCGNVYCGVHRYSDVHNCSYNYKADAAEKIRKENPVVVGEKIQKI*

Gene Symbol:ZFAND6
Accession:XM_024449959
Location:EXON
Amino Acid Prediction: V to I (nonsynonymous)
Amino Acid Position: 90
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAQETNHSQVPMLCSTGCGFYGNPRTNGMCSVCYKEHLQRQNSSNGRISPPATSVSSLSESLPVQCTDGSVPEAQSALDS
TSSSMQPSPISNQSLLSESVASSQLDSTSVDKAVPETEDVQASVSDTAQQPSEEQSKSLEKPKQKKNRCFMCRKKVGLTG
FECRCGNVYCGVHRYSDVHNCSYNYKADAAEKIRKENPVVVGEKIQKI*

Gene Symbol:ZFAND6
Accession:XM_047432697
Location:EXON
Amino Acid Prediction: V to I (nonsynonymous)
Amino Acid Position: 90
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAQETNHSQVPMLCSTGCGFYGNPRTNGMCSVCYKEHLQRQNSSNGRISPPATSVSSLSESLPVQCTDGSVPEAQSALDS
TSSSMQPSPISNQSLLSESVASSQLDSTSVDKAVPETEDVQASVSDTAQQPSEEQSKSLEKPKQKKNRCFMCRKKVGLTG
FECRCGNVYCGVHRYSDVHNCSYNYKADAAEKIRKENPVVVGEKIQKI*

Gene Symbol:ZFAND6
Accession:XM_047432696
Location:EXON
Amino Acid Prediction: V to I (nonsynonymous)
Amino Acid Position: 90
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAQETNHSQVPMLCSTGCGFYGNPRTNGMCSVCYKEHLQRQNSSNGRISPPATSVSSLSESLPVQCTDGSVPEAQSALDS
TSSSMQPSPISNQSLLSESVASSQLDSTSVDKAVPETEDVQASVSDTAQQPSEEQSKSLEKPKQKKNRCFMCRKKVGLTG
FECRCGNVYCGVHRYSDVHNCSYNYKADAAEKIRKENPVVVGEKIQKI*

Gene Symbol:ZFAND6
Accession:XM_047432695
Location:EXON
Amino Acid Prediction: V to I (nonsynonymous)
Amino Acid Position: 90
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAQETNHSQVPMLCSTGCGFYGNPRTNGMCSVCYKEHLQRQNSSNGRISPPATSVSSLSESLPVQCTDGSVPEAQSALDS
TSSSMQPSPISNQSLLSESVASSQLDSTSVDKAVPETEDVQASVSDTAQQPSEEQSKSLEKPKQKKNRCFMCRKKVGLTG
FECRCGNVYCGVHRYSDVHNCSYNYKADAAEKIRKENPVVVGEKIQKI*

Gene Symbol:ZFAND6
Accession:XM_047432694
Location:EXON
Amino Acid Prediction: V to I (nonsynonymous)
Amino Acid Position: 90
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAQETNHSQVPMLCSTGCGFYGNPRTNGMCSVCYKEHLQRQNSSNGRISPPATSVSSLSESLPVQCTDGSVPEAQSALDS
TSSSMQPSPISNQSLLSESVASSQLDSTSVDKAVPETEDVQASVSDTAQQPSEEQSKSLEKPKQKKNRCFMCRKKVGLTG
FECRCGNVYCGVHRYSDVHNCSYNYKADAAEKIRKENPVVVGEKIQKI*

Gene Symbol:ZFAND6
Accession:NM_001242919
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV004167825 CLINVAR
MedGen CN169374 CLINVAR
NCBI Gene ZFAND6 CLINVAR
OMIM 610183 CLINVAR