GUCA1ANB-GUCA1A (GUCA1ANB-GUCA1A readthrough) - Rat Genome Database

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Gene: GUCA1ANB-GUCA1A (GUCA1ANB-GUCA1A readthrough) Homo sapiens
Analyze
No known orthologs.
Symbol: GUCA1ANB-GUCA1A
Name: GUCA1ANB-GUCA1A readthrough
RGD ID: 38619775
HGNC Page HGNC:56129
Description: Enables guanylate cyclase regulator activity. Predicted to be involved in cellular response to calcium ion and visual perception. Located in cone photoreceptor outer segment and photoreceptor inner segment.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: guanylyl cyclase-activating protein 1; GUCA1A; LOC118142757
RGD Orthologs
Alliance Genes
More Info homologs ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38642,155,406 - 42,180,056 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl642,155,406 - 42,180,056 (+)EnsemblGRCh38hg38GRCh38
GRCh37642,123,144 - 42,147,794 (+)NCBIGRCh37GRCh37hg19GRCh37
Cytogenetic Map6p21.1NCBI
T2T-CHM13v2.0641,983,624 - 42,008,260 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
References
Additional References at PubMed
PMID:7983048   PMID:9119368   PMID:9425234   PMID:9620085   PMID:9651312   PMID:9702199   PMID:11108966   PMID:11146732   PMID:11484154   PMID:12477932   PMID:14574404   PMID:14702039  
PMID:15489334   PMID:15505030   PMID:15735604   PMID:15790869   PMID:16344560   PMID:19459154   PMID:21873635   PMID:28125083   PMID:28361875   PMID:28442884   PMID:30184081   PMID:30622141  
PMID:32296183  


Genomics

Variants

.
Variants in GUCA1ANB-GUCA1A
202 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_001384910.1(GUCA1A):c.554del (p.Asn185fs) deletion not provided [RCV003318302] Chr6:42179350 [GRCh38]
Chr6:42147088 [GRCh37]
Chr6:6p21.1
uncertain significance
NM_001384910.1(GUCA1A):c.431A>T (p.Asp144Val) single nucleotide variant Cone dystrophy 3 [RCV002283553]|Retinitis pigmentosa [RCV001591783] Chr6:42178881 [GRCh38]
Chr6:42146619 [GRCh37]
Chr6:6p21.1
likely pathogenic|uncertain significance
NM_000409.5(GUCA1ANB-GUCA1A):c.-472A>C single nucleotide variant Cone dystrophy 3 [RCV000324736] Chr6:42155579 [GRCh38]
Chr6:42123317 [GRCh37]
Chr6:6p21.1
benign|likely benign
NM_000409.5(GUCA1ANB-GUCA1A):c.-465G>T single nucleotide variant Cone dystrophy 3 [RCV000360881] Chr6:42155586 [GRCh38]
Chr6:42123324 [GRCh37]
Chr6:6p21.1
uncertain significance
NM_001384910.1(GUCA1A):c.526C>T (p.Leu176Phe) single nucleotide variant Cone dystrophy 3 [RCV001251248]|not provided [RCV000179309] Chr6:42179323 [GRCh38]
Chr6:42147061 [GRCh37]
Chr6:6p21.1
conflicting interpretations of pathogenicity|uncertain significance
NM_001384910.1(GUCA1A):c.-83G>A single nucleotide variant Cone dystrophy 3 [RCV000327164] Chr6:42173531 [GRCh38]
Chr6:42141269 [GRCh37]
Chr6:6p21.1
benign|likely benign
NM_001384910.1(GUCA1A):c.*76C>A single nucleotide variant Cone dystrophy 3 [RCV001163148]|Cone dystrophy [RCV000281368]|Retinitis Pigmentosa, Dominant [RCV000323549]|not provided [RCV001591024] Chr6:42179479 [GRCh38]
Chr6:42147217 [GRCh37]
Chr6:6p21.1
likely benign
NM_001384910.1(GUCA1A):c.296A>G (p.Tyr99Cys) single nucleotide variant Cone dystrophy 3 [RCV000009721]|Macular dystrophy [RCV000504789]|Retinal dystrophy [RCV001074768]|Retinitis pigmentosa [RCV000504977]|not provided [RCV000414574] Chr6:42178374 [GRCh38]
Chr6:42146112 [GRCh37]
Chr6:6p21.1
pathogenic|likely pathogenic
NM_001384910.1(GUCA1A):c.359G>T (p.Arg120Leu) single nucleotide variant Cone dystrophy 3 [RCV000987693]|Isolated macular dystrophy [RCV001199477]|not provided [RCV001093082] Chr6:42178809 [GRCh38]
Chr6:42146547 [GRCh37]
Chr6:6p21.1
pathogenic|likely pathogenic
NM_001384910.1(GUCA1A):c.*415C>T single nucleotide variant Cone dystrophy 3 [RCV001158509]|Retinitis Pigmentosa, Dominant [RCV000341150] Chr6:42179818 [GRCh38]
Chr6:42147556 [GRCh37]
Chr6:6p21.1
likely benign
NM_000409.5(GUCA1ANB-GUCA1A):c.-536T>C single nucleotide variant Cone dystrophy 3 [RCV000260197] Chr6:42155515 [GRCh38]
Chr6:42123253 [GRCh37]
Chr6:6p21.1
uncertain significance
NM_001384910.1(GUCA1A):c.451C>T (p.Leu151Phe) single nucleotide variant Cone dystrophy 3 [RCV000032613]|Retinal dystrophy [RCV001075676]|not provided [RCV001383741] Chr6:42179248 [GRCh38]
Chr6:42146986 [GRCh37]
Chr6:6p21.1
pathogenic
NM_001384910.1(GUCA1A):c.*227C>A single nucleotide variant Cone dystrophy 3 [RCV000338701] Chr6:42179630 [GRCh38]
Chr6:42147368 [GRCh37]
Chr6:6p21.1
likely benign|uncertain significance
NM_000409.5(GUCA1ANB-GUCA1A):c.-457-8C>T single nucleotide variant Cone dystrophy 3 [RCV000266206] Chr6:42162912 [GRCh38]
Chr6:42130650 [GRCh37]
Chr6:6p21.1
benign|likely benign
NM_001384910.1(GUCA1A):c.*10C>A single nucleotide variant Cone dystrophy 3 [RCV001163147]|Retinitis Pigmentosa, Dominant [RCV000261325] Chr6:42179413 [GRCh38]
Chr6:42147151 [GRCh37]
Chr6:6p21.1
likely benign|uncertain significance
NM_001384910.1(GUCA1A):c.*479C>T single nucleotide variant Cone dystrophy 3 [RCV001158511]|Cone dystrophy [RCV000360636]|Retinitis Pigmentosa, Dominant [RCV000384012] Chr6:42179882 [GRCh38]
Chr6:42147620 [GRCh37]
Chr6:6p21.1
benign|likely benign
NM_001384910.1(GUCA1A):c.567C>T (p.Asp189=) single nucleotide variant Cone dystrophy 3 [RCV001163145]|Cone dystrophy [RCV000405551]|Retinitis Pigmentosa, Dominant [RCV000372165]|not provided [RCV000958838]|not specified [RCV000250587] Chr6:42179364 [GRCh38]
Chr6:42147102 [GRCh37]
Chr6:6p21.1
benign|likely benign
NM_000409.5(GUCA1ANB-GUCA1A):c.-388C>A single nucleotide variant Cone dystrophy 3 [RCV000321348] Chr6:42162989 [GRCh38]
Chr6:42130727 [GRCh37]
Chr6:6p21.1
uncertain significance
NM_001384910.1(GUCA1A):c.9C>T (p.Asn3=) single nucleotide variant Cone dystrophy 3 [RCV001161610]|not provided [RCV000905991]|not specified [RCV000177061] Chr6:42173622 [GRCh38]
Chr6:42141360 [GRCh37]
Chr6:6p21.1
benign|likely benign
NM_001384910.1(GUCA1A):c.152C>T (p.Ser51Leu) single nucleotide variant not provided [RCV000177062] Chr6:42173765 [GRCh38]
Chr6:42141503 [GRCh37]
Chr6:6p21.1
conflicting interpretations of pathogenicity|uncertain significance
NM_001384910.1(GUCA1A):c.149C>T (p.Pro50Leu) single nucleotide variant Cone dystrophy 3 [RCV000009722]|Macular dystrophy [RCV000787609]|Usher syndrome [RCV000787610]|not provided [RCV000444625] Chr6:42173762 [GRCh38]
Chr6:42141500 [GRCh37]
Chr6:6p21.1
pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_001384910.1(GUCA1A):c.250C>T (p.Leu84Phe) single nucleotide variant Cone dystrophy 3 [RCV000210865]|not provided [RCV001543445] Chr6:42178328 [GRCh38]
Chr6:42146066 [GRCh37]
Chr6:6p21.1
pathogenic|likely pathogenic
NM_001384910.1(GUCA1A):c.364A>G (p.Ile122Val) single nucleotide variant Cone dystrophy 3 [RCV001163143]|not provided [RCV000153343] Chr6:42178814 [GRCh38]
Chr6:42146552 [GRCh37]
Chr6:6p21.1
uncertain significance
NM_001384910.1(GUCA1A):c.320T>C (p.Ile107Thr) single nucleotide variant Cone dystrophy 3 [RCV000210873]|not provided [RCV001853380] Chr6:42178398 [GRCh38]
Chr6:42146136 [GRCh37]
Chr6:6p21.1
pathogenic|likely pathogenic|uncertain significance
NM_001384910.1(GUCA1A):c.*331A>G single nucleotide variant Cone dystrophy 3 [RCV001165220]|Cone dystrophy [RCV000395121]|Retinitis Pigmentosa, Dominant [RCV000380378] Chr6:42179734 [GRCh38]
Chr6:42147472 [GRCh37]
Chr6:6p21.1
likely benign
NM_001384910.1(GUCA1A):c.142C>T (p.Leu48=) single nucleotide variant Cone dystrophy 3 [RCV000349183]|not provided [RCV000153342] Chr6:42173755 [GRCh38]
Chr6:42141493 [GRCh37]
Chr6:6p21.1
conflicting interpretations of pathogenicity|uncertain significance
NM_001384910.1(GUCA1A):c.*345G>A single nucleotide variant Cone dystrophy 3 [RCV001165223]|Cone dystrophy [RCV000298808]|Retinitis Pigmentosa, Dominant [RCV000283690] Chr6:42179748 [GRCh38]
Chr6:42147486 [GRCh37]
Chr6:6p21.1
likely benign
NM_001384910.1(GUCA1A):c.300T>A (p.Asp100Glu) single nucleotide variant Cone dystrophy 3 [RCV001251243] Chr6:42178378 [GRCh38]
Chr6:42146116 [GRCh37]
Chr6:6p21.1
likely pathogenic
NM_001384910.1(GUCA1A):c.431A>G (p.Asp144Gly) single nucleotide variant Cone dystrophy 3 [RCV001251244] Chr6:42178881 [GRCh38]
Chr6:42146619 [GRCh37]
Chr6:6p21.1
likely pathogenic
NM_001384910.1(GUCA1A):c.464A>G (p.Glu155Gly) single nucleotide variant Cone dystrophy 3 [RCV001251245]|not provided [RCV001383742] Chr6:42179261 [GRCh38]
Chr6:42146999 [GRCh37]
Chr6:6p21.1
pathogenic
GRCh38/hg38 6p21.2-21.1(chr6:37777369-45653843)x1 copy number loss See cases [RCV000052181] Chr6:37777369..45653843 [GRCh38]
Chr6:37745145..45621580 [GRCh37]
Chr6:37853123..45729558 [NCBI36]
Chr6:6p21.2-21.1
pathogenic
NM_001384910.1(GUCA1A):c.118C>T (p.Arg40Cys) single nucleotide variant not provided [RCV000902665] Chr6:42173731 [GRCh38]
Chr6:42141469 [GRCh37]
Chr6:6p21.1
likely benign
NM_001384910.1(GUCA1A):c.130G>A (p.Gly44Ser) single nucleotide variant not provided [RCV001208519] Chr6:42173743 [GRCh38]
Chr6:42141481 [GRCh37]
Chr6:6p21.1
uncertain significance
NM_000409.5(GUCA1ANB-GUCA1A):c.-293G>A single nucleotide variant Cone dystrophy 3 [RCV000385258] Chr6:42163084 [GRCh38]
Chr6:42130822 [GRCh37]
Chr6:6p21.1
uncertain significance
NM_000409.5(GUCA1ANB-GUCA1A):c.-466G>A single nucleotide variant Cone dystrophy 3 [RCV001155558] Chr6:42155585 [GRCh38]
Chr6:42123323 [GRCh37]
Chr6:6p21.1
uncertain significance
NM_000409.5(GUCA1ANB-GUCA1A):c.-413G>A single nucleotide variant Cone dystrophy 3 [RCV001157244] Chr6:42162964 [GRCh38]
Chr6:42130702 [GRCh37]
Chr6:6p21.1
uncertain significance
NM_001384910.1(GUCA1A):c.*548C>T single nucleotide variant Cone dystrophy 3 [RCV000395126] Chr6:42179951 [GRCh38]
Chr6:42147689 [GRCh37]
Chr6:6p21.1
uncertain significance
NM_001384910.1(GUCA1A):c.201+11G>T single nucleotide variant Cone dystrophy 3 [RCV001163142]|not provided [RCV002558564] Chr6:42173825 [GRCh38]
Chr6:42141563 [GRCh37]
Chr6:6p21.1
likely benign|uncertain significance
NM_001384910.1(GUCA1A):c.*332T>C single nucleotide variant Cone dystrophy 3 [RCV001165221] Chr6:42179735 [GRCh38]
Chr6:42147473 [GRCh37]
Chr6:6p21.1
uncertain significance
NM_001384910.1(GUCA1A):c.*336C>T single nucleotide variant Cone dystrophy 3 [RCV001165222] Chr6:42179739 [GRCh38]
Chr6:42147477 [GRCh37]
Chr6:6p21.1
uncertain significance
NM_001384910.1(GUCA1A):c.359G>A (p.Arg120His) single nucleotide variant Retinal dystrophy [RCV001073668] Chr6:42178809 [GRCh38]
Chr6:42146547 [GRCh37]
Chr6:6p21.1
uncertain significance
NM_001384910.1(GUCA1A):c.245T>A (p.Leu82Ter) single nucleotide variant Retinal dystrophy [RCV001075224] Chr6:42178323 [GRCh38]
Chr6:42146061 [GRCh37]
Chr6:6p21.1
uncertain significance
NM_001384910.1(GUCA1A):c.299A>G (p.Asp100Gly) single nucleotide variant Cone dystrophy 3 [RCV001251242]|Cone-rod dystrophy [RCV003325224]|Retinal dystrophy [RCV001075488] Chr6:42178377 [GRCh38]
Chr6:42146115 [GRCh37]
Chr6:6p21.1
pathogenic|likely pathogenic
NM_001384910.1(GUCA1A):c.31_36del (p.Glu11_Glu12del) deletion not provided [RCV000594251] Chr6:42173643..42173648 [GRCh38]
Chr6:42141381..42141386 [GRCh37]
Chr6:6p21.1
uncertain significance
NM_001384910.1(GUCA1A):c.428T>C (p.Ile143Thr) single nucleotide variant not provided [RCV001231321] Chr6:42178878 [GRCh38]
Chr6:42146616 [GRCh37]
Chr6:6p21.1
uncertain significance
NM_001384910.1(GUCA1A):c.73_75del (p.Phe25del) deletion not provided [RCV001233627] Chr6:42173686..42173688 [GRCh38]
Chr6:42141424..42141426 [GRCh37]
Chr6:6p21.1
uncertain significance
NM_001384910.1(GUCA1A):c.332A>T (p.Glu111Val) single nucleotide variant Cone dystrophy 3 [RCV001251250]|not provided [RCV001236761] Chr6:42178410 [GRCh38]
Chr6:42146148 [GRCh37]
Chr6:6p21.1
pathogenic|likely pathogenic
NM_001384910.1(GUCA1A):c.341C>T (p.Thr114Ile) single nucleotide variant not provided [RCV001238419] Chr6:42178419 [GRCh38]
Chr6:42146157 [GRCh37]
Chr6:6p21.1
likely benign|uncertain significance
NM_001384910.1(GUCA1A):c.562C>A (p.Gln188Lys) single nucleotide variant not provided [RCV001244109] Chr6:42179359 [GRCh38]
Chr6:42147097 [GRCh37]
Chr6:6p21.1
uncertain significance
NM_001384910.1(GUCA1A):c.*8G>A single nucleotide variant not provided [RCV000597701] Chr6:42179411 [GRCh38]
Chr6:42147149 [GRCh37]
Chr6:6p21.1
uncertain significance
NM_001384910.1(GUCA1A):c.235G>A (p.Ala79Thr) single nucleotide variant not provided [RCV001229904] Chr6:42178313 [GRCh38]
Chr6:42146051 [GRCh37]
Chr6:6p21.1
uncertain significance
NM_001384910.1(GUCA1A):c.444T>A (p.Asp148Glu) single nucleotide variant Cone dystrophy 3 [RCV001251247] Chr6:42178894 [GRCh38]
Chr6:42146632 [GRCh37]
Chr6:6p21.1
uncertain significance
GRCh38/hg38 6p25.3-12.3(chr6:156974-46789291)x3 copy number gain See cases [RCV000143497] Chr6:156974..46789291 [GRCh38]
Chr6:156974..46757028 [GRCh37]
Chr6:101974..46864987 [NCBI36]
Chr6:6p25.3-12.3
pathogenic
NM_001384910.1(GUCA1A):c.*479C>G single nucleotide variant Cone dystrophy 3 [RCV001158510] Chr6:42179882 [GRCh38]
Chr6:42147620 [GRCh37]
Chr6:6p21.1
uncertain significance
NM_001384910.1(GUCA1A):c.-88G>A single nucleotide variant Cone dystrophy 3 [RCV001161609] Chr6:42173526 [GRCh38]
Chr6:42141264 [GRCh37]
Chr6:6p21.1
uncertain significance
NM_001384910.1(GUCA1A):c.*140G>C single nucleotide variant Cone dystrophy 3 [RCV001165218] Chr6:42179543 [GRCh38]
Chr6:42147281 [GRCh37]
Chr6:6p21.1
uncertain significance
NM_001384910.1(GUCA1A):c.*213G>A single nucleotide variant Cone dystrophy 3 [RCV001165219] Chr6:42179616 [GRCh38]
Chr6:42147354 [GRCh37]
Chr6:6p21.1
uncertain significance
NM_001384910.1(GUCA1A):c.*357A>G single nucleotide variant Cone dystrophy 3 [RCV001165224] Chr6:42179760 [GRCh38]
Chr6:42147498 [GRCh37]
Chr6:6p21.1
uncertain significance
NM_001384910.1(GUCA1A):c.443A>C (p.Asp148Ala) single nucleotide variant Cone-rod dystrophy [RCV001199476]|not provided [RCV000659052] Chr6:42178893 [GRCh38]
Chr6:42146631 [GRCh37]
Chr6:6p21.1
pathogenic|likely pathogenic
NM_001384910.1(GUCA1A):c.66C>A (p.Tyr22Ter) single nucleotide variant not provided [RCV001058856] Chr6:42173679 [GRCh38]
Chr6:42141417 [GRCh37]
Chr6:6p21.1
uncertain significance
NM_001384910.1(GUCA1A):c.-242C>T single nucleotide variant Cone dystrophy 3 [RCV000288565] Chr6:42173372 [GRCh38]
Chr6:42141110 [GRCh37]
Chr6:6p21.1
uncertain significance
NM_001384910.1(GUCA1A):c.205G>C (p.Gly69Arg) single nucleotide variant Retinal dystrophy [RCV001075508]|not provided [RCV001043900] Chr6:42178283 [GRCh38]
Chr6:42146021 [GRCh37]
Chr6:6p21.1
uncertain significance
NM_001384910.1(GUCA1A):c.256G>T (p.Gly86Trp) single nucleotide variant not provided [RCV001203064] Chr6:42178334 [GRCh38]
Chr6:42146072 [GRCh37]
Chr6:6p21.1
uncertain significance
NM_001384910.1(GUCA1A):c.332A>C (p.Glu111Ala) single nucleotide variant Retinal dystrophy [RCV000504679] Chr6:42178410 [GRCh38]
Chr6:42146148 [GRCh37]
Chr6:6p21.1
likely pathogenic
NM_001384910.1(GUCA1A):c.463G>A (p.Glu155Lys) single nucleotide variant not provided [RCV001221898] Chr6:42179260 [GRCh38]
Chr6:42146998 [GRCh37]
Chr6:6p21.1
uncertain significance
NM_001384910.1(GUCA1A):c.265G>A (p.Glu89Lys) single nucleotide variant not provided [RCV001268032] Chr6:42178343 [GRCh38]
Chr6:42146081 [GRCh37]
Chr6:6p21.1
pathogenic|conflicting interpretations of pathogenicity
GRCh38/hg38 6p21.1-12.3(chr6:41638061-46512949)x1 copy number loss See cases [RCV000052182] Chr6:41638061..46512949 [GRCh38]
Chr6:41605799..46480686 [GRCh37]
Chr6:41713777..46588645 [NCBI36]
Chr6:6p21.1-12.3
pathogenic
NM_001384910.1(GUCA1A):c.295T>A (p.Tyr99Asn) single nucleotide variant Cone dystrophy 3 [RCV001251239] Chr6:42178373 [GRCh38]
Chr6:42146111 [GRCh37]
Chr6:6p21.1
likely pathogenic
NM_001384910.1(GUCA1A):c.256G>C (p.Gly86Arg) single nucleotide variant Cone dystrophy 3 [RCV001251251] Chr6:42178334 [GRCh38]
Chr6:42146072 [GRCh37]
Chr6:6p21.1
likely pathogenic
NM_001384910.1(GUCA1A):c.551A>G (p.Gln184Arg) single nucleotide variant Cone dystrophy 3 [RCV001163144]|not provided [RCV002067982] Chr6:42179348 [GRCh38]
Chr6:42147086 [GRCh37]
Chr6:6p21.1
likely benign|uncertain significance
NM_001384910.1(GUCA1A):c.455C>G (p.Ser152Cys) single nucleotide variant Cone dystrophy 3 [RCV001331207]|not provided [RCV001058265] Chr6:42179252 [GRCh38]
Chr6:42146990 [GRCh37]
Chr6:6p21.1
uncertain significance
NM_001384910.1(GUCA1A):c.124T>C (p.Phe42Leu) single nucleotide variant not provided [RCV001044082] Chr6:42173737 [GRCh38]
Chr6:42141475 [GRCh37]
Chr6:6p21.1
uncertain significance
NM_001384910.1(GUCA1A):c.428delinsACAC (p.Ile143delinsAsnThr) indel Retinal dystrophy [RCV001075036]|not provided [RCV000521580] Chr6:42178878 [GRCh38]
Chr6:42146616 [GRCh37]
Chr6:6p21.1
pathogenic|likely pathogenic|uncertain significance
NM_001384910.1(GUCA1A):c.41G>C (p.Ser14Thr) single nucleotide variant Retinal dystrophy [RCV001075442] Chr6:42173654 [GRCh38]
Chr6:42141392 [GRCh37]
Chr6:6p21.1
uncertain significance
NM_001384910.1(GUCA1A):c.212T>C (p.Ile71Thr) single nucleotide variant Retinal dystrophy [RCV001075513]|not provided [RCV001233768] Chr6:42178290 [GRCh38]
Chr6:42146028 [GRCh37]
Chr6:6p21.1
uncertain significance
NM_001384910.1(GUCA1A):c.359_360delinsTT (p.Arg120Leu) indel Cone dystrophy 3 [RCV000520064] Chr6:42178809..42178810 [GRCh38]
Chr6:42146547..42146548 [GRCh37]
Chr6:6p21.1
pathogenic
NM_001384910.1(GUCA1A):c.201+5G>A single nucleotide variant not provided [RCV001243473] Chr6:42173819 [GRCh38]
Chr6:42141557 [GRCh37]
Chr6:6p21.1
uncertain significance
NM_001384910.1(GUCA1A):c.296A>C (p.Tyr99Ser) single nucleotide variant Cone dystrophy 3 [RCV001251240] Chr6:42178374 [GRCh38]
Chr6:42146112 [GRCh37]
Chr6:6p21.1
likely pathogenic
NM_001384910.1(GUCA1A):c.204C>G (p.Asp68Glu) single nucleotide variant Cone dystrophy 3 [RCV001251241] Chr6:42178282 [GRCh38]
Chr6:42146020 [GRCh37]
Chr6:6p21.1
uncertain significance
NM_001384910.1(GUCA1A):c.312C>A (p.Asn104Lys) single nucleotide variant Cone dystrophy 3 [RCV001251249]|not provided [RCV002570448] Chr6:42178390 [GRCh38]
Chr6:42146128 [GRCh37]
Chr6:6p21.1
pathogenic|likely pathogenic
NM_001384910.1(GUCA1A):c.-26A>G single nucleotide variant Cone dystrophy 3 [RCV000388684]|not provided [RCV001683417] Chr6:42173588 [GRCh38]
Chr6:42141326 [GRCh37]
Chr6:6p21.1
benign|likely benign
NM_001384910.1(GUCA1A):c.10G>A (p.Val4Met) single nucleotide variant Cone dystrophy 3 [RCV000296695]|not provided [RCV001239158] Chr6:42173623 [GRCh38]
Chr6:42141361 [GRCh37]
Chr6:6p21.1
conflicting interpretations of pathogenicity|uncertain significance
NM_001384910.1(GUCA1A):c.238C>A (p.Leu80Ile) single nucleotide variant Cone dystrophy 3 [RCV001251246] Chr6:42178316 [GRCh38]
Chr6:42146054 [GRCh37]
Chr6:6p21.1
uncertain significance
NM_001384910.1(GUCA1A):c.*538T>G single nucleotide variant Cone dystrophy 3 [RCV001158512] Chr6:42179941 [GRCh38]
Chr6:42147679 [GRCh37]
Chr6:6p21.1
uncertain significance
NM_000409.5(GUCA1ANB-GUCA1A):c.-378G>A single nucleotide variant Cone dystrophy 3 [RCV001158407] Chr6:42162999 [GRCh38]
Chr6:42130737 [GRCh37]
Chr6:6p21.1
uncertain significance
NM_000409.5(GUCA1ANB-GUCA1A):c.-473C>T single nucleotide variant Cone dystrophy 3 [RCV001155557] Chr6:42155578 [GRCh38]
Chr6:42123316 [GRCh37]
Chr6:6p21.1
uncertain significance
NM_000409.5(GUCA1ANB-GUCA1A):c.-372G>A single nucleotide variant Cone dystrophy 3 [RCV001161608] Chr6:42163005 [GRCh38]
Chr6:42130743 [GRCh37]
Chr6:6p21.1
uncertain significance
NM_001384910.1(GUCA1A):c.*627T>A single nucleotide variant Cone dystrophy 3 [RCV000302410] Chr6:42180030 [GRCh38]
Chr6:42147768 [GRCh37]
Chr6:6p21.1
likely benign|uncertain significance
NM_001384910.1(GUCA1A):c.313_318del (p.Gly105_Cys106del) deletion Cone dystrophy 3 [RCV001029960] Chr6:42178390..42178395 [GRCh38]
Chr6:42146128..42146133 [GRCh37]
Chr6:6p21.1
uncertain significance
NM_001384910.1(GUCA1A):c.154G>A (p.Ala52Thr) single nucleotide variant not provided [RCV001041391] Chr6:42173767 [GRCh38]
Chr6:42141505 [GRCh37]
Chr6:6p21.1
uncertain significance
NM_001384910.1(GUCA1A):c.205G>T (p.Gly69Cys) single nucleotide variant Rod-cone dystrophy [RCV001270346]|not provided [RCV000426849] Chr6:42178283 [GRCh38]
Chr6:42146021 [GRCh37]
Chr6:6p21.1
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001384910.1(GUCA1A):c.262G>T (p.Val88Leu) single nucleotide variant Retinal dystrophy [RCV001073582] Chr6:42178340 [GRCh38]
Chr6:42146078 [GRCh37]
Chr6:6p21.1
uncertain significance
NM_001384910.1(GUCA1A):c.568G>C (p.Glu190Gln) single nucleotide variant Cone dystrophy 3 [RCV001163146]|not provided [RCV001043904] Chr6:42179365 [GRCh38]
Chr6:42147103 [GRCh37]
Chr6:6p21.1
uncertain significance
NM_001384910.1(GUCA1A):c.401A>G (p.Glu134Gly) single nucleotide variant not provided [RCV001044591] Chr6:42178851 [GRCh38]
Chr6:42146589 [GRCh37]
Chr6:6p21.1
uncertain significance
NM_001384910.1(GUCA1A):c.305A>T (p.Asp102Val) single nucleotide variant not provided [RCV001227159] Chr6:42178383 [GRCh38]
Chr6:42146121 [GRCh37]
Chr6:6p21.1
uncertain significance
NM_001384910.1(GUCA1A):c.600C>T (p.Ala200=) single nucleotide variant not provided [RCV001517134]|not specified [RCV000594425] Chr6:42179397 [GRCh38]
Chr6:42147135 [GRCh37]
Chr6:6p21.1
benign|likely benign
NM_001384910.1(GUCA1A):c.119G>A (p.Arg40His) single nucleotide variant not provided [RCV001228801] Chr6:42173732 [GRCh38]
Chr6:42141470 [GRCh37]
Chr6:6p21.1
uncertain significance
NM_001384910.1(GUCA1A):c.575G>A (p.Gly192Glu) single nucleotide variant Inborn genetic diseases [RCV003284179]|not provided [RCV001316122] Chr6:42179372 [GRCh38]
Chr6:42147110 [GRCh37]
Chr6:6p21.1
uncertain significance
NM_001384910.1(GUCA1A):c.546G>T (p.Arg182Ser) single nucleotide variant not provided [RCV001307549] Chr6:42179343 [GRCh38]
Chr6:42147081 [GRCh37]
Chr6:6p21.1
uncertain significance
NM_001384910.1(GUCA1A):c.227A>G (p.Tyr76Cys) single nucleotide variant not provided [RCV001305776] Chr6:42178305 [GRCh38]
Chr6:42146043 [GRCh37]
Chr6:6p21.1
uncertain significance
NM_001384910.1(GUCA1A):c.211A>G (p.Ile71Val) single nucleotide variant not provided [RCV001315346] Chr6:42178289 [GRCh38]
Chr6:42146027 [GRCh37]
Chr6:6p21.1
uncertain significance
NM_001384910.1(GUCA1A):c.202-6G>C single nucleotide variant not provided [RCV001396509] Chr6:42178274 [GRCh38]
Chr6:42146012 [GRCh37]
Chr6:6p21.1
likely benign
NM_001384910.1(GUCA1A):c.331G>A (p.Glu111Lys) single nucleotide variant not provided [RCV001297914] Chr6:42178409 [GRCh38]
Chr6:42146147 [GRCh37]
Chr6:6p21.1
uncertain significance
NM_001384910.1(GUCA1A):c.378C>T (p.Ser126=) single nucleotide variant not provided [RCV001422631] Chr6:42178828 [GRCh38]
Chr6:42146566 [GRCh37]
Chr6:6p21.1
likely benign
NM_001384910.1(GUCA1A):c.312C>G (p.Asn104Lys) single nucleotide variant not provided [RCV001383291] Chr6:42178390 [GRCh38]
Chr6:42146128 [GRCh37]
Chr6:6p21.1
pathogenic
NM_001384910.1(GUCA1A):c.333G>C (p.Glu111Asp) single nucleotide variant Cone dystrophy 3 [RCV001352961] Chr6:42178411 [GRCh38]
Chr6:42146149 [GRCh37]
Chr6:6p21.1
likely pathogenic
NM_001384910.1(GUCA1A):c.506C>A (p.Thr169Lys) single nucleotide variant Inborn genetic diseases [RCV003284245]|not provided [RCV001350972] Chr6:42179303 [GRCh38]
Chr6:42147041 [GRCh37]
Chr6:6p21.1
uncertain significance
NM_001384910.1(GUCA1A):c.541C>A (p.Arg181Ser) single nucleotide variant not provided [RCV001344129] Chr6:42179338 [GRCh38]
Chr6:42147076 [GRCh37]
Chr6:6p21.1
uncertain significance
NM_001384910.1(GUCA1A):c.424A>G (p.Lys142Glu) single nucleotide variant not provided [RCV001323324] Chr6:42178874 [GRCh38]
Chr6:42146612 [GRCh37]
Chr6:6p21.1
uncertain significance
NM_001384910.1(GUCA1A):c.100C>T (p.Leu34Phe) single nucleotide variant Inborn genetic diseases [RCV003166834]|not provided [RCV001317913] Chr6:42173713 [GRCh38]
Chr6:42141451 [GRCh37]
Chr6:6p21.1
uncertain significance
NM_001384910.1(GUCA1A):c.201+1G>A single nucleotide variant not provided [RCV001301261] Chr6:42173815 [GRCh38]
Chr6:42141553 [GRCh37]
Chr6:6p21.1
uncertain significance
NM_001384910.1(GUCA1A):c.502G>A (p.Asp168Asn) single nucleotide variant not provided [RCV001366333] Chr6:42179299 [GRCh38]
Chr6:42147037 [GRCh37]
Chr6:6p21.1
uncertain significance
NM_001384910.1(GUCA1A):c.333G>A (p.Glu111=) single nucleotide variant not provided [RCV001412402] Chr6:42178411 [GRCh38]
Chr6:42146149 [GRCh37]
Chr6:6p21.1
likely benign
NM_001384910.1(GUCA1A):c.445+19G>C single nucleotide variant not provided [RCV001519974] Chr6:42178914 [GRCh38]
Chr6:42146652 [GRCh37]
Chr6:6p21.1
benign
NM_001384910.1(GUCA1A):c.446-9C>T single nucleotide variant not provided [RCV001479434] Chr6:42179234 [GRCh38]
Chr6:42146972 [GRCh37]
Chr6:6p21.1
likely benign
NM_001384910.1(GUCA1A):c.588C>T (p.Ala196=) single nucleotide variant not provided [RCV001455773] Chr6:42179385 [GRCh38]
Chr6:42147123 [GRCh37]
Chr6:6p21.1
likely benign
NM_001384910.1(GUCA1A):c.261G>A (p.Lys87=) single nucleotide variant not provided [RCV001497801] Chr6:42178339 [GRCh38]
Chr6:42146077 [GRCh37]
Chr6:6p21.1
likely benign
NM_001384910.1(GUCA1A):c.202-4C>A single nucleotide variant not provided [RCV001517894] Chr6:42178276 [GRCh38]
Chr6:42146014 [GRCh37]
Chr6:6p21.1
benign
NM_001384910.1(GUCA1A):c.150G>A (p.Pro50=) single nucleotide variant not provided [RCV001487267] Chr6:42173763 [GRCh38]
Chr6:42141501 [GRCh37]
Chr6:6p21.1
likely benign
NM_001384910.1(GUCA1A):c.351+7A>T single nucleotide variant not provided [RCV001449435] Chr6:42178436 [GRCh38]
Chr6:42146174 [GRCh37]
Chr6:6p21.1
likely benign
NM_001384910.1(GUCA1A):c.306T>C (p.Asp102=) single nucleotide variant not provided [RCV001426833] Chr6:42178384 [GRCh38]
Chr6:42146122 [GRCh37]
Chr6:6p21.1
likely benign
NM_001384910.1(GUCA1A):c.129C>T (p.Phe43=) single nucleotide variant not provided [RCV001481608] Chr6:42173742 [GRCh38]
Chr6:42141480 [GRCh37]
Chr6:6p21.1
likely benign
NM_001384910.1(GUCA1A):c.60G>A (p.Gln20=) single nucleotide variant not provided [RCV001451013] Chr6:42173673 [GRCh38]
Chr6:42141411 [GRCh37]
Chr6:6p21.1
likely benign
NM_001384910.1(GUCA1A):c.202-13G>A single nucleotide variant not provided [RCV001491295] Chr6:42178267 [GRCh38]
Chr6:42146005 [GRCh37]
Chr6:6p21.1
likely benign
NM_001384910.1(GUCA1A):c.48C>T (p.Thr16=) single nucleotide variant not provided [RCV001511418] Chr6:42173661 [GRCh38]
Chr6:42141399 [GRCh37]
Chr6:6p21.1
benign
NM_001384910.1(GUCA1A):c.446-96G>A single nucleotide variant not provided [RCV001617645] Chr6:42179147 [GRCh38]
Chr6:42146885 [GRCh37]
Chr6:6p21.1
benign
NM_001384910.1(GUCA1A):c.99A>G (p.Gln33=) single nucleotide variant not provided [RCV001470757] Chr6:42173712 [GRCh38]
Chr6:42141450 [GRCh37]
Chr6:6p21.1
likely benign
NM_001384910.1(GUCA1A):c.93T>C (p.Ser31=) single nucleotide variant not provided [RCV001456637] Chr6:42173706 [GRCh38]
Chr6:42141444 [GRCh37]
Chr6:6p21.1
likely benign
NM_001384910.1(GUCA1A):c.446-18C>A single nucleotide variant not provided [RCV001516522] Chr6:42179225 [GRCh38]
Chr6:42146963 [GRCh37]
Chr6:6p21.1
benign
NM_001384910.1(GUCA1A):c.202-16C>T single nucleotide variant not provided [RCV001519589] Chr6:42178264 [GRCh38]
Chr6:42146002 [GRCh37]
Chr6:6p21.1
benign
NM_001384910.1(GUCA1A):c.427_428insACA (p.Lys142_Ile143insAsn) insertion not provided [RCV001377389] Chr6:42178876..42178877 [GRCh38]
Chr6:42146614..42146615 [GRCh37]
Chr6:6p21.1
pathogenic|likely pathogenic
NM_001384910.1(GUCA1A):c.328_337del (p.Asp110fs) deletion not provided [RCV001771052] Chr6:42178404..42178413 [GRCh38]
Chr6:42146142..42146151 [GRCh37]
Chr6:6p21.1
uncertain significance
NM_001384910.1(GUCA1A):c.310A>G (p.Asn104Asp) single nucleotide variant not provided [RCV001764840] Chr6:42178388 [GRCh38]
Chr6:42146126 [GRCh37]
Chr6:6p21.1
uncertain significance
NM_001384910.1(GUCA1A):c.235G>T (p.Ala79Ser) single nucleotide variant not provided [RCV002008233] Chr6:42178313 [GRCh38]
Chr6:42146051 [GRCh37]
Chr6:6p21.1
uncertain significance
NM_001384910.1(GUCA1A):c.238C>T (p.Leu80Phe) single nucleotide variant not provided [RCV001971463] Chr6:42178316 [GRCh38]
Chr6:42146054 [GRCh37]
Chr6:6p21.1
uncertain significance
NM_001384910.1(GUCA1A):c.515G>C (p.Arg172Pro) single nucleotide variant not provided [RCV002008861] Chr6:42179312 [GRCh38]
Chr6:42147050 [GRCh37]
Chr6:6p21.1
uncertain significance
NM_001384910.1(GUCA1A):c.236C>A (p.Ala79Glu) single nucleotide variant not provided [RCV002004063] Chr6:42178314 [GRCh38]
Chr6:42146052 [GRCh37]
Chr6:6p21.1
uncertain significance
NM_001384910.1(GUCA1A):c.280T>C (p.Trp94Arg) single nucleotide variant not provided [RCV002002091] Chr6:42178358 [GRCh38]
Chr6:42146096 [GRCh37]
Chr6:6p21.1
uncertain significance
NM_001384910.1(GUCA1A):c.601G>A (p.Gly201Ser) single nucleotide variant not provided [RCV002020968] Chr6:42179398 [GRCh38]
Chr6:42147136 [GRCh37]
Chr6:6p21.1
uncertain significance
NM_001384910.1(GUCA1A):c.432C>G (p.Asp144Glu) single nucleotide variant not provided [RCV001890415] Chr6:42178882 [GRCh38]
Chr6:42146620 [GRCh37]
Chr6:6p21.1
uncertain significance
NM_001384910.1(GUCA1A):c.149C>G (p.Pro50Arg) single nucleotide variant not provided [RCV002004925] Chr6:42173762 [GRCh38]
Chr6:42141500 [GRCh37]
Chr6:6p21.1
uncertain significance
NM_001384910.1(GUCA1A):c.493A>T (p.Met165Leu) single nucleotide variant not provided [RCV002020826] Chr6:42179290 [GRCh38]
Chr6:42147028 [GRCh37]
Chr6:6p21.1
uncertain significance
NM_001384910.1(GUCA1A):c.119G>T (p.Arg40Leu) single nucleotide variant not provided [RCV001927536] Chr6:42173732 [GRCh38]
Chr6:42141470 [GRCh37]
Chr6:6p21.1
uncertain significance
NM_001384910.1(GUCA1A):c.509dup (p.Thr171fs) duplication not provided [RCV002003207] Chr6:42179305..42179306 [GRCh38]
Chr6:42147043..42147044 [GRCh37]
Chr6:6p21.1
uncertain significance
NM_001384910.1(GUCA1A):c.219_221dup (p.Phe73_Met74insIle) duplication not provided [RCV001872199] Chr6:42178295..42178296 [GRCh38]
Chr6:42146033..42146034 [GRCh37]
Chr6:6p21.1
uncertain significance
NM_001384910.1(GUCA1A):c.490C>T (p.Gln164Ter) single nucleotide variant not provided [RCV002011668] Chr6:42179287 [GRCh38]
Chr6:42147025 [GRCh37]
Chr6:6p21.1
uncertain significance
NM_001384910.1(GUCA1A):c.524A>C (p.Asp175Ala) single nucleotide variant not provided [RCV001998726] Chr6:42179321 [GRCh38]
Chr6:42147059 [GRCh37]
Chr6:6p21.1
uncertain significance
NM_001384910.1(GUCA1A):c.201+3G>C single nucleotide variant not provided [RCV001991485] Chr6:42173817 [GRCh38]
Chr6:42141555 [GRCh37]
Chr6:6p21.1
uncertain significance
NM_001384910.1(GUCA1A):c.277C>T (p.Arg93Cys) single nucleotide variant not provided [RCV001926030] Chr6:42178355 [GRCh38]
Chr6:42146093 [GRCh37]
Chr6:6p21.1
uncertain significance
NM_001384910.1(GUCA1A):c.61_62insC (p.Trp21fs) insertion not provided [RCV001973050] Chr6:42173674..42173675 [GRCh38]
Chr6:42141412..42141413 [GRCh37]
Chr6:6p21.1
uncertain significance
NM_001384910.1(GUCA1A):c.573G>C (p.Glu191Asp) single nucleotide variant not provided [RCV001930146] Chr6:42179370 [GRCh38]
Chr6:42147108 [GRCh37]
Chr6:6p21.1
uncertain significance
NM_001384910.1(GUCA1A):c.500T>C (p.Leu167Pro) single nucleotide variant not provided [RCV001990388] Chr6:42179297 [GRCh38]
Chr6:42147035 [GRCh37]
Chr6:6p21.1
uncertain significance
NM_001384910.1(GUCA1A):c.293T>G (p.Leu98Arg) single nucleotide variant Inborn genetic diseases [RCV002561326]|not provided [RCV001919682] Chr6:42178371 [GRCh38]
Chr6:42146109 [GRCh37]
Chr6:6p21.1
uncertain significance
NM_001384910.1(GUCA1A):c.49G>T (p.Glu17Ter) single nucleotide variant not provided [RCV001960928] Chr6:42173662 [GRCh38]
Chr6:42141400 [GRCh37]
Chr6:6p21.1
uncertain significance
NM_001384910.1(GUCA1A):c.166G>A (p.Val56Met) single nucleotide variant not provided [RCV001924657] Chr6:42173779 [GRCh38]
Chr6:42141517 [GRCh37]
Chr6:6p21.1
uncertain significance
NM_001384910.1(GUCA1A):c.295T>C (p.Tyr99His) single nucleotide variant not provided [RCV002029849] Chr6:42178373 [GRCh38]
Chr6:42146111 [GRCh37]
Chr6:6p21.1
pathogenic|uncertain significance
NM_001384910.1(GUCA1A):c.201+5G>T single nucleotide variant not provided [RCV002015513] Chr6:42173819 [GRCh38]
Chr6:42141557 [GRCh37]
Chr6:6p21.1
uncertain significance
NM_001384910.1(GUCA1A):c.337C>T (p.Leu113Phe) single nucleotide variant not provided [RCV001921920] Chr6:42178415 [GRCh38]
Chr6:42146153 [GRCh37]
Chr6:6p21.1
uncertain significance
NM_001384910.1(GUCA1A):c.567C>G (p.Asp189Glu) single nucleotide variant not provided [RCV001907235] Chr6:42179364 [GRCh38]
Chr6:42147102 [GRCh37]
Chr6:6p21.1
uncertain significance
NM_001384910.1(GUCA1A):c.9C>G (p.Asn3Lys) single nucleotide variant not provided [RCV002015054] Chr6:42173622 [GRCh38]
Chr6:42141360 [GRCh37]
Chr6:6p21.1
uncertain significance
NM_001384910.1(GUCA1A):c.369C>A (p.Asn123Lys) single nucleotide variant not provided [RCV001999109] Chr6:42178819 [GRCh38]
Chr6:42146557 [GRCh37]
Chr6:6p21.1
uncertain significance
NM_001384910.1(GUCA1A):c.465G>C (p.Glu155Asp) single nucleotide variant Cone dystrophy 3 [RCV002246629]|not provided [RCV001961266] Chr6:42179262 [GRCh38]
Chr6:42147000 [GRCh37]
Chr6:6p21.1
likely pathogenic|uncertain significance
NM_001384910.1(GUCA1A):c.25T>C (p.Ser9Pro) single nucleotide variant not provided [RCV001937164] Chr6:42173638 [GRCh38]
Chr6:42141376 [GRCh37]
Chr6:6p21.1
uncertain significance
NM_001384910.1(GUCA1A):c.479T>C (p.Val160Ala) single nucleotide variant not provided [RCV001903140] Chr6:42179276 [GRCh38]
Chr6:42147014 [GRCh37]
Chr6:6p21.1
uncertain significance
NM_001384910.1(GUCA1A):c.445+5G>A single nucleotide variant not provided [RCV002030249] Chr6:42178900 [GRCh38]
Chr6:42146638 [GRCh37]
Chr6:6p21.1
uncertain significance
NM_001384910.1(GUCA1A):c.445+9G>T single nucleotide variant not provided [RCV002192275] Chr6:42178904 [GRCh38]
Chr6:42146642 [GRCh37]
Chr6:6p21.1
likely benign
NM_001384910.1(GUCA1A):c.237G>C (p.Ala79=) single nucleotide variant not provided [RCV002185924] Chr6:42178315 [GRCh38]
Chr6:42146053 [GRCh37]
Chr6:6p21.1
likely benign
NM_001384910.1(GUCA1A):c.384C>A (p.Thr128=) single nucleotide variant not provided [RCV002215724] Chr6:42178834 [GRCh38]
Chr6:42146572 [GRCh37]
Chr6:6p21.1
likely benign
NM_001384910.1(GUCA1A):c.202-15G>C single nucleotide variant not provided [RCV002208566] Chr6:42178265 [GRCh38]
Chr6:42146003 [GRCh37]
Chr6:6p21.1
benign
NM_001384910.1(GUCA1A):c.202-9C>T single nucleotide variant not provided [RCV002192335] Chr6:42178271 [GRCh38]
Chr6:42146009 [GRCh37]
Chr6:6p21.1
likely benign
NM_001384910.1(GUCA1A):c.446-17C>G single nucleotide variant not provided [RCV002080039] Chr6:42179226 [GRCh38]
Chr6:42146964 [GRCh37]
Chr6:6p21.1
likely benign
NM_001384910.1(GUCA1A):c.396A>C (p.Ala132=) single nucleotide variant not provided [RCV002077847] Chr6:42178846 [GRCh38]
Chr6:42146584 [GRCh37]
Chr6:6p21.1
benign
NM_001384910.1(GUCA1A):c.445+16A>G single nucleotide variant not provided [RCV002199967] Chr6:42178911 [GRCh38]
Chr6:42146649 [GRCh37]
Chr6:6p21.1
likely benign
NM_001384910.1(GUCA1A):c.6C>T (p.Gly2=) single nucleotide variant not provided [RCV002123127] Chr6:42173619 [GRCh38]
Chr6:42141357 [GRCh37]
Chr6:6p21.1
likely benign
NM_001384910.1(GUCA1A):c.201+20C>T single nucleotide variant not provided [RCV002143148] Chr6:42173834 [GRCh38]
Chr6:42141572 [GRCh37]
Chr6:6p21.1
likely benign
NM_001384910.1(GUCA1A):c.124T>A (p.Phe42Ile) single nucleotide variant not provided [RCV002163953] Chr6:42173737 [GRCh38]
Chr6:42141475 [GRCh37]
Chr6:6p21.1
likely benign
NM_001384910.1(GUCA1A):c.165C>T (p.Tyr55=) single nucleotide variant not provided [RCV002101136] Chr6:42173778 [GRCh38]
Chr6:42141516 [GRCh37]
Chr6:6p21.1
likely benign
NM_001384910.1(GUCA1A):c.445+11C>T single nucleotide variant not provided [RCV002176108] Chr6:42178906 [GRCh38]
Chr6:42146644 [GRCh37]
Chr6:6p21.1
likely benign
NM_001384910.1(GUCA1A):c.445+20G>C single nucleotide variant not provided [RCV002084441] Chr6:42178915 [GRCh38]
Chr6:42146653 [GRCh37]
Chr6:6p21.1
likely benign
NM_001384910.1(GUCA1A):c.123G>C (p.Gln41His) single nucleotide variant Cone dystrophy 3 [RCV002273294] Chr6:42173736 [GRCh38]
Chr6:42141474 [GRCh37]
Chr6:6p21.1
uncertain significance
NM_001384910.1(GUCA1A):c.335T>A (p.Leu112Gln) single nucleotide variant not provided [RCV002464807] Chr6:42178413 [GRCh38]
Chr6:42146151 [GRCh37]
Chr6:6p21.1
uncertain significance
NM_001384910.1(GUCA1A):c.184A>C (p.Thr62Pro) single nucleotide variant Cone dystrophy 3 [RCV002465042] Chr6:42173797 [GRCh38]
Chr6:42141535 [GRCh37]
Chr6:6p21.1
uncertain significance
NM_001384910.1(GUCA1A):c.532C>T (p.Arg178Cys) single nucleotide variant not provided [RCV002296860] Chr6:42179329 [GRCh38]
Chr6:42147067 [GRCh37]
Chr6:6p21.1
uncertain significance
NM_001384910.1(GUCA1A):c.535A>G (p.Ile179Val) single nucleotide variant not provided [RCV002301531] Chr6:42179332 [GRCh38]
Chr6:42147070 [GRCh37]
Chr6:6p21.1
uncertain significance
NM_001384910.1(GUCA1A):c.201+16G>T single nucleotide variant not provided [RCV002815443] Chr6:42173830 [GRCh38]
Chr6:42141568 [GRCh37]
Chr6:6p21.1
likely benign
NM_001384910.1(GUCA1A):c.202-7C>T single nucleotide variant not provided [RCV003034483] Chr6:42178273 [GRCh38]
Chr6:42146011 [GRCh37]
Chr6:6p21.1
likely benign
NM_001384910.1(GUCA1A):c.438C>G (p.Asn146Lys) single nucleotide variant not provided [RCV002820133] Chr6:42178888 [GRCh38]
Chr6:42146626 [GRCh37]
Chr6:6p21.1
uncertain significance
NM_001384910.1(GUCA1A):c.334C>T (p.Leu112=) single nucleotide variant not provided [RCV002858589] Chr6:42178412 [GRCh38]
Chr6:42146150 [GRCh37]
Chr6:6p21.1
likely benign
NM_001384910.1(GUCA1A):c.11T>C (p.Val4Ala) single nucleotide variant not provided [RCV002816291] Chr6:42173624 [GRCh38]
Chr6:42141362 [GRCh37]
Chr6:6p21.1
uncertain significance
NM_001384910.1(GUCA1A):c.90del (p.Ser31fs) deletion not provided [RCV003054036] Chr6:42173700 [GRCh38]
Chr6:42141438 [GRCh37]
Chr6:6p21.1
uncertain significance
NM_001384910.1(GUCA1A):c.429T>C (p.Ile143=) single nucleotide variant not provided [RCV003053112] Chr6:42178879 [GRCh38]
Chr6:42146617 [GRCh37]
Chr6:6p21.1
likely benign
NM_001384910.1(GUCA1A):c.256G>A (p.Gly86Arg) single nucleotide variant not provided [RCV002866880] Chr6:42178334 [GRCh38]
Chr6:42146072 [GRCh37]
Chr6:6p21.1
uncertain significance
NM_001384910.1(GUCA1A):c.153G>A (p.Ser51=) single nucleotide variant not provided [RCV002696241] Chr6:42173766 [GRCh38]
Chr6:42141504 [GRCh37]
Chr6:6p21.1
likely benign
NM_001384910.1(GUCA1A):c.446-10T>C single nucleotide variant not provided [RCV002910043] Chr6:42179233 [GRCh38]
Chr6:42146971 [GRCh37]
Chr6:6p21.1
likely benign
NM_001384910.1(GUCA1A):c.351+7A>G single nucleotide variant not provided [RCV002847277] Chr6:42178436 [GRCh38]
Chr6:42146174 [GRCh37]
Chr6:6p21.1
likely benign
NM_001384910.1(GUCA1A):c.228C>T (p.Tyr76=) single nucleotide variant not provided [RCV002780602] Chr6:42178306 [GRCh38]
Chr6:42146044 [GRCh37]
Chr6:6p21.1
likely benign
NM_001384910.1(GUCA1A):c.351+13C>A single nucleotide variant not provided [RCV002976687] Chr6:42178442 [GRCh38]
Chr6:42146180 [GRCh37]
Chr6:6p21.1
likely benign
NM_001384910.1(GUCA1A):c.470T>C (p.Ile157Thr) single nucleotide variant not provided [RCV002952357] Chr6:42179267 [GRCh38]
Chr6:42147005 [GRCh37]
Chr6:6p21.1
uncertain significance
NM_001384910.1(GUCA1A):c.86G>A (p.Cys29Tyr) single nucleotide variant not provided [RCV002736563] Chr6:42173699 [GRCh38]
Chr6:42141437 [GRCh37]
Chr6:6p21.1
uncertain significance
NM_001384910.1(GUCA1A):c.236del (p.Ala79fs) deletion not provided [RCV002695853] Chr6:42178314 [GRCh38]
Chr6:42146052 [GRCh37]
Chr6:6p21.1
uncertain significance
NM_001384910.1(GUCA1A):c.195C>T (p.Phe65=) single nucleotide variant not provided [RCV002695190] Chr6:42173808 [GRCh38]
Chr6:42141546 [GRCh37]
Chr6:6p21.1
likely benign
NM_001384910.1(GUCA1A):c.166G>T (p.Val56Leu) single nucleotide variant not provided [RCV002735106] Chr6:42173779 [GRCh38]
Chr6:42141517 [GRCh37]
Chr6:6p21.1
uncertain significance
NM_001384910.1(GUCA1A):c.119G>C (p.Arg40Pro) single nucleotide variant not provided [RCV002828264] Chr6:42173732 [GRCh38]
Chr6:42141470 [GRCh37]
Chr6:6p21.1
uncertain significance
NM_001384910.1(GUCA1A):c.27A>C (p.Ser9=) single nucleotide variant not provided [RCV003024431] Chr6:42173640 [GRCh38]
Chr6:42141378 [GRCh37]
Chr6:6p21.1
likely benign
NM_001384910.1(GUCA1A):c.245T>C (p.Leu82Ser) single nucleotide variant not provided [RCV002801205] Chr6:42178323 [GRCh38]
Chr6:42146061 [GRCh37]
Chr6:6p21.1
uncertain significance
NM_001384910.1(GUCA1A):c.395C>T (p.Ala132Val) single nucleotide variant not provided [RCV003057687] Chr6:42178845 [GRCh38]
Chr6:42146583 [GRCh37]
Chr6:6p21.1
uncertain significance
NM_001384910.1(GUCA1A):c.298G>C (p.Asp100His) single nucleotide variant not provided [RCV002852306] Chr6:42178376 [GRCh38]
Chr6:42146114 [GRCh37]
Chr6:6p21.1
uncertain significance
NM_001384910.1(GUCA1A):c.231G>A (p.Val77=) single nucleotide variant not provided [RCV002801758] Chr6:42178309 [GRCh38]
Chr6:42146047 [GRCh37]
Chr6:6p21.1
likely benign
NM_001384910.1(GUCA1A):c.202-19G>A single nucleotide variant not provided [RCV002851803] Chr6:42178261 [GRCh38]
Chr6:42145999 [GRCh37]
Chr6:6p21.1
likely benign
NM_001384910.1(GUCA1A):c.20G>C (p.Gly7Ala) single nucleotide variant not provided [RCV003040186] Chr6:42173633 [GRCh38]
Chr6:42141371 [GRCh37]
Chr6:6p21.1
uncertain significance
NM_001384910.1(GUCA1A):c.520C>G (p.Leu174Val) single nucleotide variant not provided [RCV003064205] Chr6:42179317 [GRCh38]
Chr6:42147055 [GRCh37]
Chr6:6p21.1
uncertain significance
NM_001384910.1(GUCA1A):c.351+13C>G single nucleotide variant not provided [RCV002631419] Chr6:42178442 [GRCh38]
Chr6:42146180 [GRCh37]
Chr6:6p21.1
likely benign
NM_001384910.1(GUCA1A):c.126C>T (p.Phe42=) single nucleotide variant not provided [RCV002745993] Chr6:42173739 [GRCh38]
Chr6:42141477 [GRCh37]
Chr6:6p21.1
likely benign
NM_001384910.1(GUCA1A):c.572_586dup (p.Glu195_Ala196insGluGlyAlaAspGlu) duplication not provided [RCV002647118] Chr6:42179361..42179362 [GRCh38]
Chr6:42147099..42147100 [GRCh37]
Chr6:6p21.1
uncertain significance
NM_001384910.1(GUCA1A):c.85T>C (p.Cys29Arg) single nucleotide variant not provided [RCV002670957] Chr6:42173698 [GRCh38]
Chr6:42141436 [GRCh37]
Chr6:6p21.1
uncertain significance
NM_001384910.1(GUCA1A):c.441G>A (p.Gly147=) single nucleotide variant not provided [RCV002646232] Chr6:42178891 [GRCh38]
Chr6:42146629 [GRCh37]
Chr6:6p21.1
likely benign
NM_001384910.1(GUCA1A):c.240C>T (p.Leu80=) single nucleotide variant not provided [RCV002607370] Chr6:42178318 [GRCh38]
Chr6:42146056 [GRCh37]
Chr6:6p21.1
likely benign
NM_001384910.1(GUCA1A):c.351+13C>T single nucleotide variant not provided [RCV003050383] Chr6:42178442 [GRCh38]
Chr6:42146180 [GRCh37]
Chr6:6p21.1
likely benign
NM_001384910.1(GUCA1A):c.442G>C (p.Asp148His) single nucleotide variant Cone-rod dystrophy [RCV003324699] Chr6:42178892 [GRCh38]
Chr6:42146630 [GRCh37]
Chr6:6p21.1
likely pathogenic
NM_001384910.1(GUCA1A):c.495dup (p.Leu166fs) duplication not provided [RCV003543620] Chr6:42179291..42179292 [GRCh38]
Chr6:42147029..42147030 [GRCh37]
Chr6:6p21.1
uncertain significance
NM_001384910.1(GUCA1A):c.351+15G>T single nucleotide variant not provided [RCV003572757] Chr6:42178444 [GRCh38]
Chr6:42146182 [GRCh37]
Chr6:6p21.1
likely benign
NM_001384910.1(GUCA1A):c.446-1G>T single nucleotide variant not provided [RCV003662702] Chr6:42179242 [GRCh38]
Chr6:42146980 [GRCh37]
Chr6:6p21.1
uncertain significance

Expression


Sequence


RefSeq Acc Id: ENST00000654459   ⟹   ENSP00000499539
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl642,155,406 - 42,179,403 (+)Ensembl
RefSeq Acc Id: ENST00000703265   ⟹   ENSP00000515250
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl642,155,406 - 42,178,342 (+)Ensembl
RefSeq Acc Id: ENST00000703266   ⟹   ENSP00000515251
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl642,155,436 - 42,180,056 (+)Ensembl
RefSeq Acc Id: ENST00000703267   ⟹   ENSP00000515252
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl642,155,446 - 42,180,054 (+)Ensembl
RefSeq Acc Id: NM_000409   ⟹   NP_000400
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38642,155,406 - 42,180,056 (+)NCBI
T2T-CHM13v2.0641,983,624 - 42,008,260 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001319061   ⟹   NP_001305990
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38642,155,406 - 42,180,056 (+)NCBI
T2T-CHM13v2.0641,983,624 - 42,008,260 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001319062   ⟹   NP_001305991
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38642,155,406 - 42,180,056 (+)NCBI
T2T-CHM13v2.0641,983,624 - 42,008,260 (+)NCBI
Sequence:
RefSeq Acc Id: NP_001305990   ⟸   NM_001319061
- UniProtKB: Q7Z6T1 (UniProtKB/Swiss-Prot),   B3KWT4 (UniProtKB/Swiss-Prot),   Q9NU14 (UniProtKB/Swiss-Prot),   P43080 (UniProtKB/Swiss-Prot),   B2R9P6 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_000400   ⟸   NM_000409
- UniProtKB: Q7Z6T1 (UniProtKB/Swiss-Prot),   B3KWT4 (UniProtKB/Swiss-Prot),   Q9NU14 (UniProtKB/Swiss-Prot),   P43080 (UniProtKB/Swiss-Prot),   B2R9P6 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001305991   ⟸   NM_001319062
- UniProtKB: Q7Z6T1 (UniProtKB/Swiss-Prot),   B3KWT4 (UniProtKB/Swiss-Prot),   Q9NU14 (UniProtKB/Swiss-Prot),   P43080 (UniProtKB/Swiss-Prot),   B2R9P6 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSP00000515251   ⟸   ENST00000703266
RefSeq Acc Id: ENSP00000499539   ⟸   ENST00000654459
RefSeq Acc Id: ENSP00000515250   ⟸   ENST00000703265
RefSeq Acc Id: ENSP00000515252   ⟸   ENST00000703267
Protein Domains
EF-hand

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-P43080-F1-model_v2 AlphaFold P43080 1-201 view protein structure

Promoters
RGD ID:7208041
Promoter ID:EPDNEW_H9767
Type:multiple initiation site
Name:GUCA1A_1
Description:guanylate cyclase activator 1A
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H9768  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38642,155,406 - 42,155,466EPDNEW

Additional Information

Database Acc Id Source(s)
COSMIC GUCA1ANB-GUCA1A COSMIC
Ensembl Genes ENSG00000048545 Ensembl, UniProtKB/Swiss-Prot
  ENSG00000290147 Ensembl, ENTREZGENE, UniProtKB/TrEMBL
Ensembl Transcript ENST00000372958.2 UniProtKB/Swiss-Prot
  ENST00000654459 ENTREZGENE
  ENST00000703265.1 UniProtKB/TrEMBL
  ENST00000703266.1 UniProtKB/TrEMBL
Gene3D-CATH EF-hand UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000048545 GTEx
  ENSG00000290147 GTEx
HGNC ID HGNC:56129 ENTREZGENE
Human Proteome Map GUCA1ANB-GUCA1A Human Proteome Map
InterPro EF-hand-dom_pair UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  EF_Hand_1_Ca_BS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  EF_hand_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Recoverin UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:118142757 UniProtKB/Swiss-Prot
NCBI Gene LOC118142757 ENTREZGENE
PANTHER PTHR23055 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR23055:SF13 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  RIKEN CDNA 1700001C19 GENE UniProtKB/TrEMBL
  RIKEN CDNA 1700001C19 GENE UniProtKB/TrEMBL
Pfam EF-hand_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  EF-hand_7 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PRINTS RECOVERIN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE EF_HAND_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  EF_HAND_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART EFh UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF47473 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A590UK58_HUMAN UniProtKB/TrEMBL
  A6PVH5_HUMAN UniProtKB/TrEMBL
  B2R9P6 ENTREZGENE, UniProtKB/TrEMBL
  B3KWT4 ENTREZGENE
  GUC1A_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
  Q7Z6T1 ENTREZGENE
  Q9NU14 ENTREZGENE
UniProt Secondary B3KWT4 UniProtKB/Swiss-Prot
  Q7Z6T1 UniProtKB/Swiss-Prot
  Q9NU14 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2023-01-30 GUCA1ANB-GUCA1A  GUCA1ANB-GUCA1A readthrough  LOC118142757  GUCA1ANB-GUCA1A readthrough  Symbol and/or name change 19259463 PROVISIONAL