RGD:156070392 Rat Genome Database

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Variant: RGD:156070392 -  Homo sapiens

RGD ID: 156070392
ClinVar ID: CV2325081
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: PLCD4  ZNF142  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 2 219,498,866
GRCh38 2 218,634,143
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001379661.1:c.*4196G>A
NM_001379662.1:c.*4196G>A
NM_032726.4:c.1645C>T
NG_033099.2:g.30480G>A
More... 		12/14/2022 3 prime utr variant uncertain significance
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:ZNF142
Accession:XM_011511788
Location:3UTRS;EXON

Gene Symbol:ZNF142
Accession:XM_011511786
Location:3UTRS;EXON

Gene Symbol:ZNF142
Accession:NM_001366290
Location:3UTRS;EXON

Gene Symbol:ZNF142
Accession:NM_001379660
Location:3UTRS;EXON

Gene Symbol:ZNF142
Accession:NM_001379661
Location:3UTRS;EXON

Gene Symbol:ZNF142
Accession:NM_001379662
Location:3UTRS;EXON

Gene Symbol:ZNF142
Accession:NM_001379659
Location:3UTRS;EXON

Gene Symbol:ZNF142
Accession:XM_047445782
Location:3UTRS;EXON

Gene Symbol:ZNF142
Accession:XM_047445780
Location:3UTRS;EXON

Gene Symbol:ZNF142
Accession:XM_047445781
Location:3UTRS;EXON

Gene Symbol:ZNF142
Accession:XM_047445778
Location:3UTRS;EXON

Gene Symbol:ZNF142
Accession:XM_047445779
Location:3UTRS;EXON

Gene Symbol:ZNF142
Accession:XM_047445777
Location:3UTRS;EXON

Gene Symbol:ZNF142
Accession:XM_047445784
Location:3UTRS;EXON

Gene Symbol:ZNF142
Accession:XM_047445783
Location:3UTRS;EXON

Gene Symbol:PLCD4
Accession:XM_047446078
Location:3UTRS;EXON

Gene Symbol:PLCD4
Accession:NM_032726
Location:EXON
Amino Acid Prediction: R to C (nonsynonymous)
Amino Acid Position: 549
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MASLLQDQLTTDQDLLLMQEGMPMRKVRSKSWKKLRYFRLQNDGMTVWHARQARGSAKPSFSISDVETIRNGHDSELLRS
LAEELPLEQGFTIVFHGRRSNLDLMANSVEEAQIWMRGLQLLVDLVTSMDHQERLDQWLSDWFQRGDKNQDGKMSFQEVQ
RLLHLMNVEMDQEYAFSLFQAADTSQSGTLEGEEFVQFYKALTKRAEVQELFESFSADGQKLTLLEFLDFLQEEQKERDC
TSELALELIDRYEPSDSGKLRHVLSMDGFLSYLCSKDGDIFNPACLPIYQDMTQPLNHYFICSSHNTYLVGDQLCGQSSV
EGYIRALKRGCRCVEVDVWDGPSGEPVVYHGHTLTSRILFKDVVATVAQYAFQTSDYPVILSLETHCSWEQQQTMARHLT
EILGEQLLSTTLDGVLPTQLPSPEELRRKILVKGKKLTLEEDLEYEEEEAEPELEESELALESQFETEPEPQEQNLQNKD
KKKKSKPILCPALSSLVIYLKSVSFRSFTHSKEHYHFYEISSFSETKAKRLIKEAGNEFVQHNTWQLSCVYPSGLRTDSS
NYNPQELWNAGCQMVAMNMQTAGLEMDICDGHFRQNGGCGYVLKPDFLRDIQSSFHPEKPISPFKAQTLLIQVISGQQLP
KVDKTKEGSIVDPLVKVQIFGVRLDTARQETNYVENNGFNPYWGQTLCFRVLVPELAMLRFVVMDYDWKSRNDFIGQYTL
PWTCMQQGYRHIHLLSKDGISLRPASIFVYICIQEGLEGDES*

Gene Symbol:PLCD4
Accession:XM_005246913
Location:EXON
Amino Acid Prediction: R to C (nonsynonymous)
Amino Acid Position: 549
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MASLLQDQLTTDQDLLLMQEGMPMRKVRSKSWKKLRYFRLQNDGMTVWHARQARGSAKPSFSISDVETIRNGHDSELLRS
LAEELPLEQGFTIVFHGRRSNLDLMANSVEEAQIWMRGLQLLVDLVTSMDHQERLDQWLSDWFQRGDKNQDGKMSFQEVQ
RLLHLMNVEMDQEYAFSLFQAADTSQSGTLEGEEFVQFYKALTKRAEVQELFESFSADGQKLTLLEFLDFLQEEQKERDC
TSELALELIDRYEPSDSGKLRHVLSMDGFLSYLCSKDGDIFNPACLPIYQDMTQPLNHYFICSSHNTYLVGDQLCGQSSV
EGYIRALKRGCRCVEVDVWDGPSGEPVVYHGHTLTSRILFKDVVATVAQYAFQTSDYPVILSLETHCSWEQQQTMARHLT
EILGEQLLSTTLDGVLPTQLPSPEELRRKILVKGKKLTLEEDLEYEEEEAEPELEESELALESQFETEPEPQEQNLQNKD
KKKKSKPILCPALSSLVIYLKSVSFRSFTHSKEHYHFYEISSFSETKAKRLIKEAGNEFVQHNTWQLSCVYPSGLRTDSS
NYNPQELWNAGCQMVAMNMQTAGLEMDICDGHFRQNGGCGYVLKPDFLRDIQSSFHPEKPISPFKAQTLLIQVISGQQLP
KVDKTKEGSIVDPLVKVQIFGVRLDTARQETNYVENNGFNPYWGQTLCFRVLVPELAMLRFVVMDYDWKSRNDFIGQYTL
PWTCMQQGEPAPLAPGQYPSSGCLPNAVLLPLPGYRHIHLLSKDGISLRPASIFVYICIQEGLEGDES*

Gene Symbol:PLCD4
Accession:XM_011512012
Location:EXON
Amino Acid Prediction: R to C (nonsynonymous)
Amino Acid Position: 581
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MASLLQDQLTTDQDLLLMQEGMPMRKVRSKSWKKLRYFRLQNDGMTVWHARQARGSAKPSFSISDVETIRNGHDSELLRS
LAEELPLEQGFTIVFHGRRSNLDLMANSVEEAQIWMRGLQLLVDLVTSMDHQERLDQWLSDWFQRGDKNQDGKMSFQEVQ
RLLHLMNVEMDQEYAFSLFQAADTSQSGTLEGEEFVQFYKALTKRAEVQELFESFSADGQKLTLLEFLDFLQEEQKERDC
TSELALELIDRYEPSDSGKLRHVLSMDGFLSYLCSKDGDIFNPACLPIYQDMTQPLNHYFICSSHNTYLVGDQLCGQSSV
EGYIRALKRGCRCVEVDVWDGPSGEPVVYHGHTLTSRILFKDVVATVAQYAFQTSDYPVILSLETHCSWEQQQTMARHLT
EILGEQLLSTTLDGVLPTQLPSPEELRRKILVKGKKLTLEEDLEYEEEEAEPELEESELALESQFETEPEPQEQNLQNKD
KKKVVTCPLFCPSICCQIVAQAPISKPESLLLSRQKSKPILCPALSSLVIYLKSVSFRSFTHSKEHYHFYEISSFSETKA
KRLIKEAGNEFVQHNTWQLSCVYPSGLRTDSSNYNPQELWNAGCQMVAMNMQTAGLEMDICDGHFRQNGGCGYVLKPDFL
RDIQSSFHPEKPISPFKAQTLLIQVISGQQLPKVDKTKEGSIVDPLVKVQIFGVRLDTARQETNYVENNGFNPYWGQTLC
FRVLVPELAMLRFVVMDYDWKSRNDFIGQYTLPWTCMQQGEPAPLAPGQYPSSGCLPNAVLLPLPGYRHIHLLSKDGISL
RPASIFVYICIQEGLEGDES*

Gene Symbol:PLCD4
Accession:XM_024453182
Location:EXON
Amino Acid Prediction: R to C (nonsynonymous)
Amino Acid Position: 581
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MASLLQDQLTTDQDLLLMQEGMPMRKVRSKSWKKLRYFRLQNDGMTVWHARQARGSAKPSFSISDVETIRNGHDSELLRS
LAEELPLEQGFTIVFHGRRSNLDLMANSVEEAQIWMRGLQLLVDLVTSMDHQERLDQWLSDWFQRGDKNQDGKMSFQEVQ
RLLHLMNVEMDQEYAFSLFQAADTSQSGTLEGEEFVQFYKALTKRAEVQELFESFSADGQKLTLLEFLDFLQEEQKERDC
TSELALELIDRYEPSDSGKLRHVLSMDGFLSYLCSKDGDIFNPACLPIYQDMTQPLNHYFICSSHNTYLVGDQLCGQSSV
EGYIRALKRGCRCVEVDVWDGPSGEPVVYHGHTLTSRILFKDVVATVAQYAFQTSDYPVILSLETHCSWEQQQTMARHLT
EILGEQLLSTTLDGVLPTQLPSPEELRRKILVKGKKLTLEEDLEYEEEEAEPELEESELALESQFETEPEPQEQNLQNKD
KKKVVTCPLFCPSICCQIVAQAPISKPESLLLSRQKSKPILCPALSSLVIYLKSVSFRSFTHSKEHYHFYEISSFSETKA
KRLIKEAGNEFVQHNTWQLSCVYPSGLRTDSSNYNPQELWNAGCQMVAMNMQTAGLEMDICDGHFRQNGGCGYVLKPDFL
RDIQSSFHPEKPISPFKAQTLLIQVISGQQLPKVDKTKEGSIVDPLVKVQIFGVRLDTARQETNYVENNGFNPYWGQTLC
FRVLVPELAMLRFVVMDYDWKSRNDFIGQYTLPWTCMQQGYRHIHLLSKDGISLRPASIFVYICIQEGLEGDES*

Gene Symbol:PLCD4
Accession:XM_047446072
Location:EXON
Amino Acid Prediction: R to C (nonsynonymous)
Amino Acid Position: 622
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MASLLQDQLTTDQDLLLMQEGMPMRKVRSKSWKKLRYFRLQNDGMTVWHARQARGSAKPSFSISDVETIRNGHDSELLRS
LAEELPLEQGFTIVFHGRRSNLDLMANSVEEAQIWMRGLQLLVDLVTSMDHQERLDQWLSDWFQRGDKNQDGKMSFQEVQ
RLLHLMNVEMDQEYAFSLFQAADTSQSGTLEGEEFVQFYKALTKRAEVQELFESFSADGQKLTLLEFLDFLQEEQKERDC
TSELALELIDRYEPSDSGKLRHVLSMDGFLSYLCSKDGDIFNPACLPIYQDMTQPLNHYFICSSHNTYLVGDQLCGQSSV
EGYIRALKRGCRCVEVDVWDGPSGEPVVYHGHTLTSRILFKDVVATVAQYAFQTSDYPVILSLETHCSWEQQQTMARHLT
EILGEQLLSTTLDGVLPTQLPSPEELRRKILVKGKKLTLEEDLEYEEEEAEPELEESELALESQFETEPEPQEQNLQNKD
KKKVVTCPLFCPSICCQIVAQAPISKPESLLLSRQVRQEGEYSGEAVGRGLGWMAIIFFSLRLLRVQFHLLFHLLQKSKP
ILCPALSSLVIYLKSVSFRSFTHSKEHYHFYEISSFSETKAKRLIKEAGNEFVQHNTWQLSCVYPSGLRTDSSNYNPQEL
WNAGCQMVAMNMQTAGLEMDICDGHFRQNGGCGYVLKPDFLRDIQSSFHPEKPISPFKAQTLLIQVISGQQLPKVDKTKE
GSIVDPLVKVQIFGVRLDTARQETNYVENNGFNPYWGQTLCFRVLVPELAMLRFVVMDYDWKSRNDFIGQYTLPWTCMQQ
GEPAPLAPGQYPSSGCLPNAVLLPLPGYRHIHLLSKDGISLRPASIFVYICIQEGLEGDES*

Gene Symbol:PLCD4
Accession:XM_047446075
Location:EXON
Amino Acid Prediction: R to C (nonsynonymous)
Amino Acid Position: 622
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MASLLQDQLTTDQDLLLMQEGMPMRKVRSKSWKKLRYFRLQNDGMTVWHARQARGSAKPSFSISDVETIRNGHDSELLRS
LAEELPLEQGFTIVFHGRRSNLDLMANSVEEAQIWMRGLQLLVDLVTSMDHQERLDQWLSDWFQRGDKNQDGKMSFQEVQ
RLLHLMNVEMDQEYAFSLFQAADTSQSGTLEGEEFVQFYKALTKRAEVQELFESFSADGQKLTLLEFLDFLQEEQKERDC
TSELALELIDRYEPSDSGKLRHVLSMDGFLSYLCSKDGDIFNPACLPIYQDMTQPLNHYFICSSHNTYLVGDQLCGQSSV
EGYIRALKRGCRCVEVDVWDGPSGEPVVYHGHTLTSRILFKDVVATVAQYAFQTSDYPVILSLETHCSWEQQQTMARHLT
EILGEQLLSTTLDGVLPTQLPSPEELRRKILVKGKKLTLEEDLEYEEEEAEPELEESELALESQFETEPEPQEQNLQNKD
KKKVVTCPLFCPSICCQIVAQAPISKPESLLLSRQVRQEGEYSGEAVGRGLGWMAIIFFSLRLLRVQFHLLFHLLQKSKP
ILCPALSSLVIYLKSVSFRSFTHSKEHYHFYEISSFSETKAKRLIKEAGNEFVQHNTWQLSCVYPSGLRTDSSNYNPQEL
WNAGCQMVAMNMQTAGLEMDICDGHFRQNGGCGYVLKPDFLRDIQSSFHPEKPISPFKAQTLLIQVISGQQLPKVDKTKE
GSIVDPLVKVQIFGVRLDTARQETNYVENNGFNPYWGQTLCFRVLVPELAMLRFVVMDYDWKSRNDFIGQYTLPWTCMQQ
GEPAPLAPGQYPSSGCLPNAVLLPLPGYRHIHLLSKDGISLRPASIFVYICIQEGLEGDES*

Gene Symbol:PLCD4
Accession:XM_047446076
Location:EXON
Amino Acid Prediction: R to C (nonsynonymous)
Amino Acid Position: 622
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MASLLQDQLTTDQDLLLMQEGMPMRKVRSKSWKKLRYFRLQNDGMTVWHARQARGSAKPSFSISDVETIRNGHDSELLRS
LAEELPLEQGFTIVFHGRRSNLDLMANSVEEAQIWMRGLQLLVDLVTSMDHQERLDQWLSDWFQRGDKNQDGKMSFQEVQ
RLLHLMNVEMDQEYAFSLFQAADTSQSGTLEGEEFVQFYKALTKRAEVQELFESFSADGQKLTLLEFLDFLQEEQKERDC
TSELALELIDRYEPSDSGKLRHVLSMDGFLSYLCSKDGDIFNPACLPIYQDMTQPLNHYFICSSHNTYLVGDQLCGQSSV
EGYIRALKRGCRCVEVDVWDGPSGEPVVYHGHTLTSRILFKDVVATVAQYAFQTSDYPVILSLETHCSWEQQQTMARHLT
EILGEQLLSTTLDGVLPTQLPSPEELRRKILVKGKKLTLEEDLEYEEEEAEPELEESELALESQFETEPEPQEQNLQNKD
KKKVVTCPLFCPSICCQIVAQAPISKPESLLLSRQVRQEGEYSGEAVGRGLGWMAIIFFSLRLLRVQFHLLFHLLQKSKP
ILCPALSSLVIYLKSVSFRSFTHSKEHYHFYEISSFSETKAKRLIKEAGNEFVQHNTWQLSCVYPSGLRTDSSNYNPQEL
WNAGCQMVAMNMQTAGLEMDICDGHFRQNGGCGYVLKPDFLRDIQSSFHPEKPISPFKAQTLLIQVISGQQLPKVDKTKE
GSIVDPLVKVQIFGVRLDTARQETNYVENNGFNPYWGQTLCFRVLVPELAMLRFVVMDYDWKSRNDFIGQYTLPWTCMQQ
GYRHIHLLSKDGISLRPASIFVYICIQEGLEGDES*

Gene Symbol:PLCD4
Accession:XM_047446077
Location:EXON
Amino Acid Prediction: R to C (nonsynonymous)
Amino Acid Position: 571
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MASLLQDQLTTDQDLLLMQEGMPMRKVRSKSWKKLRYFRLQNDGMTVWHARQARGSAKPSFSISDVETIRNGHDSELLRS
LAEELPLEQGFTIVFHGRRSNLDLMANSVEEAQIWMRGLQLLVDLVTSMDHQERLDQWLSDWFQRGDKNQDGKMSFQEVQ
RLLHLMNVEMDQEYAFSLFQAADTSQSGTLEGEEFVQFYKALTKRAEVQELFESFSADGQKLTLLEFLDFLQEEQKERDC
TSELALELIDRYEPSDSGKLRHVLSMDGFLSYLCSKDGDIFNPACLPIYQDMTQPLNHYFICSSHNTYLVGDQLCGQSSV
EGYIRALKRGCRCVEVDVWDGPSGEPVVYHGHTLTSRILFKDVVATVAQYAFQELRRKILVKGKKLTLEEDLEYEEEEAE
PELEESELALESQFETEPEPQEQNLQNKDKKKVVTCPLFCPSICCQIVAQAPISKPESLLLSRQVRQEGEYSGEAVGRGL
GWMAIIFFSLRLLRVQFHLLFHLLQKSKPILCPALSSLVIYLKSVSFRSFTHSKEHYHFYEISSFSETKAKRLIKEAGNE
FVQHNTWQLSCVYPSGLRTDSSNYNPQELWNAGCQMVAMNMQTAGLEMDICDGHFRQNGGCGYVLKPDFLRDIQSSFHPE
KPISPFKAQTLLIQVISGQQLPKVDKTKEGSIVDPLVKVQIFGVRLDTARQETNYVENNGFNPYWGQTLCFRVLVPELAM
LRFVVMDYDWKSRNDFIGQYTLPWTCMQQGEPAPLAPGQYPSSGCLPNAVLLPLPGYRHIHLLSKDGISLRPASIFVYIC
IQEGLEGDES*

Gene Symbol:PLCD4
Accession:XM_047446074
Location:EXON
Amino Acid Prediction: R to C (nonsynonymous)
Amino Acid Position: 622
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MASLLQDQLTTDQDLLLMQEGMPMRKVRSKSWKKLRYFRLQNDGMTVWHARQARGSAKPSFSISDVETIRNGHDSELLRS
LAEELPLEQGFTIVFHGRRSNLDLMANSVEEAQIWMRGLQLLVDLVTSMDHQERLDQWLSDWFQRGDKNQDGKMSFQEVQ
RLLHLMNVEMDQEYAFSLFQAADTSQSGTLEGEEFVQFYKALTKRAEVQELFESFSADGQKLTLLEFLDFLQEEQKERDC
TSELALELIDRYEPSDSGKLRHVLSMDGFLSYLCSKDGDIFNPACLPIYQDMTQPLNHYFICSSHNTYLVGDQLCGQSSV
EGYIRALKRGCRCVEVDVWDGPSGEPVVYHGHTLTSRILFKDVVATVAQYAFQTSDYPVILSLETHCSWEQQQTMARHLT
EILGEQLLSTTLDGVLPTQLPSPEELRRKILVKGKKLTLEEDLEYEEEEAEPELEESELALESQFETEPEPQEQNLQNKD
KKKVVTCPLFCPSICCQIVAQAPISKPESLLLSRQVRQEGEYSGEAVGRGLGWMAIIFFSLRLLRVQFHLLFHLLQKSKP
ILCPALSSLVIYLKSVSFRSFTHSKEHYHFYEISSFSETKAKRLIKEAGNEFVQHNTWQLSCVYPSGLRTDSSNYNPQEL
WNAGCQMVAMNMQTAGLEMDICDGHFRQNGGCGYVLKPDFLRDIQSSFHPEKPISPFKAQTLLIQVISGQQLPKVDKTKE
GSIVDPLVKVQIFGVRLDTARQETNYVENNGFNPYWGQTLCFRVLVPELAMLRFVVMDYDWKSRNDFIGQYTLPWTCMQQ
GEPAPLAPGQYPSSGCLPNAVLLPLPGYRHIHLLSKDGISLRPASIFVYICIQEGLEGDES*

Gene Symbol:ZNF142
Accession:NM_001105537
Location:INTRON

Gene Symbol:ZNF142
Accession:NM_001366289
Location:INTRON

Gene Symbol:ZNF142
Accession:NM_001366288
Location:INTRON

Gene Symbol:ZNF142
Accession:NM_001366287
Location:INTRON

Gene Symbol:ZNF142
Accession:NM_001366291
Location:INTRON

Gene Symbol:ZNF142
Accession:NM_001367340
Location:INTRON

Gene Symbol:ZNF142
Accession:NM_001367342
Location:INTRON

Gene Symbol:ZNF142
Accession:NM_001367341
Location:INTRON

Gene Symbol:ZNF142
Accession:NM_001367339
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV002925579 CLINVAR
MedGen C0950123 CLINVAR
NCBI Gene PLCD4 CLINVAR
  ZNF142 CLINVAR
OMIM 604083 CLINVAR
  605939 CLINVAR