Full data view for gene MC4R

Information The variants shown are described using the NM_005912.2 transcript reference sequence.

1053 entries on 11 pages. Showing entries 1 - 100.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Allele     

Classification method     

Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
./. - c.-19975598_*9675920del r.0? p.0? Unknown - pathogenic g.48362664_78015180del - - - ATP8B1_000025 mosaicism, hemizygous in 0.46 cells PubMed: DDDS 2015, Journal: DDDS 2015 - - Somatic - - - - - DNA SEQ, SEQ-NG-I - - ? - PubMed: DDDS 2015, Journal: DDDS 2015 family, 1 affected F - United Kingdom (Great Britain) - - - Decipher - 1 Johan den Dunnen
?/? ? c.-1101C>T r.(=) p.(=) Unknown - VUS g.58040683G>A g.60373450G>A - - MC4R_000003 no homozygotes; Core_TF predicted the loss of a PAX6-01 recognition site as a result of this mutation. This PAX6-01 recognition site is conserved in chimpanzee, gorilla, and macaque (see Supplementary Figure S3 online in the paper of van den Berg , 2010) PubMed: van den Berg et al 2010 - - Unknown - 1/434 - - - DNA SEQ - - obesity - - 291 obese cases F - Netherlands Dutch - - - - 1 Linda van den Berg
-?/-? ? c.-1042C>T r.(=) p.(=) Unknown - likely benign g.58040624G>A g.60373391G>A - - MC4R_000002 no homozygotes; Polymorphism that has been detected in similar frequencies in obese and lean people. PubMed: van den Berg et al 2010 - - Unknown - 4/174 - - - DNA SEQ - - Healthy/Control - - 87 healthy unrelated individuals, unknown BMI; See supplementary Table S3 of van den Berg et al (2010) for more information. - - Morocco Northern Moroccan Berbers - - - - 4 Linda van den Berg
?/? ? c.-1042C>T - p.(=) Unknown - VUS g.58040624G>A g.60373391G>A - - MC4R_000002 - - - rs17066842 Unknown - - - - - DNA ? - - Healthy/Control - - - - - - - - - - - 1 Linda van den Berg
?/? ? c.-1042C>T - p.(=) Unknown - VUS g.58040624G>A g.60373391G>A - - MC4R_000002 - PubMed: Cole et al 2009 - - Unknown - - - - - DNA ? - - obesity - - - - - - - - - - - 1 Linda van den Berg
?/? ? c.-1042C>T - p.(=) Unknown - VUS g.58040624G>A g.60373391G>A - - MC4R_000002 - Hapmap - - Unknown - - - - - DNA ? - - Healthy/Control - - - - - - - - - - - 1 Linda van den Berg
?/? ? c.-1042C>T - p.(=) Unknown - VUS g.58040624G>A g.60373391G>A - - MC4R_000002 - PubMed: Liu et al 2007 - - Unknown - - - - - DNA ? - - Healthy/Control - - - - - - - - - - - 1 Linda van den Berg
-?/-? ? c.-1042C>T - p.(=) Unknown - likely benign g.58040624G>A g.60373391G>A - - MC4R_000002 1 homozygote; Polymorphism that has been detected in similar frequencies in obese and lean people. PubMed: van den Berg et al 2010 - - Unknown - 30/434 - - - DNA SEQ - - obesity - - 291 obese cases - - (Netherlands) - - - - - 30 Linda van den Berg
?/? ? c.-1042C>T - p.(=) Unknown - VUS g.58040624G>A g.60373391G>A - - MC4R_000002 - PubMed: Valli-Jaakola et al 2004 - - Unknown - - - - - DNA ? - - obesity - - - - - - - - - - - 1 Linda van den Berg
?/? ? c.-1042C>T - p.(=) Unknown - VUS g.58040624G>A g.60373391G>A - - MC4R_000002 - PubMed: Valli-Jaakola et al 2004 - - Unknown - - - - - DNA ? - - Healthy/Control - - - - - - - - - - - 1 Linda van den Berg
-?/-? ? c.-1005C>T r.(=) p.(=) Parent #1 - likely benign g.58040587G>A g.60373354G>A - - MC4R_000001 1 homozygote; Polymorphism that has been detected in similar frequencies in obese and lean people. PubMed: van den Berg et al 2010 - - Unknown - 24/174 - - - DNA SEQ - - Healthy/Control - - 87 healthy unrelated individuals, unknown BMI; See supplementary Table S3 of van den Berg et al (2010) for more information. - - Morocco Northern Moroccan Berbers - - - - 24 Linda van den Berg
?/? ? c.-1005C>T - p.(=) Unknown - VUS g.58040587G>A g.60373354G>A - - MC4R_000001 - - - rs11872992 Unknown - - - - - DNA ? - - Healthy/Control - - - - - - - - - - - 1 Linda van den Berg
?/? ? c.-1005C>T - p.(=) Unknown - VUS g.58040587G>A g.60373354G>A - - MC4R_000001 - PubMed: Cole et al 2009 - - Unknown - - - - - DNA ? - - obesity - - - - - - - - - - - 1 Linda van den Berg
?/? ? c.-1005C>T - p.(=) Unknown - VUS g.58040587G>A g.60373354G>A - - MC4R_000001 - Hapmap - - Unknown - - - - - DNA ? - - Healthy/Control - - - - - - - - - - - 1 Linda van den Berg
?/? ? c.-1005C>T - p.(=) Unknown - VUS g.58040587G>A g.60373354G>A - - MC4R_000001 - PubMed: Liu et al 2007 - - Unknown - - - - - DNA ? - - Healthy/Control - - - - - - - - - - - 1 Linda van den Berg
?/? ? c.-1005C>T - p.(=) Unknown - VUS g.58040587G>A g.60373354G>A - - MC4R_000001 - PubMed: Ma et al 2004 - - Unknown - - - - - DNA ? - - Healthy/Control - - - - - - - - - - - 1 Linda van den Berg
?/? ? c.-1005C>T - p.(=) Unknown - VUS g.58040587G>A g.60373354G>A - - MC4R_000001 - PubMed: Ma et al 2004 - - Unknown - - - - - DNA ? - - obesity - - - - - - - - - - - 1 Linda van den Berg
-?/-? ? c.-1005C>T r.(=) p.(=) Unknown - likely benign g.58040587G>A g.60373354G>A - - MC4R_000001 4 homozygotes; Polymorphism that has been detected in similar frequencies in obese and lean people. PubMed: van den Berg et al 2010 - - Unknown - 69/434 - - - DNA SEQ - - obesity - - 291 obese cases - - (Netherlands) - - - - - 69 Linda van den Berg
?/? ? c.-1005C>T - p.(=) Unknown - VUS g.58040587G>A g.60373354G>A - - MC4R_000001 - PubMed: Valli-Jaakola et al 2004 - - Unknown - - - - - DNA ? - - obesity - - - - - - - - - - - 1 Linda van den Berg
?/? ? c.-1005C>T - p.(=) Unknown - VUS g.58040587G>A g.60373354G>A - - MC4R_000001 - PubMed: Valli-Jaakola et al 2004 - - Unknown - - - - - DNA ? - - Healthy/Control - - - - - - - - - - - 1 Linda van den Berg
?/? ? c.-959del r.(=) p.(=) Unknown - VUS g.58040541del g.60373308del - - MC4R_000009 - - - rs34767917 Unknown - - - - - DNA ? - - Healthy/Control - - - - - - - - - - - 1 Linda van den Berg
-?/-? ? c.-896C>T r.(=) p.(=) Parent #1 - likely benign g.58040478G>A g.60373245G>A - - MC4R_000008 Polymorphism that has been detected in similar frequencies in obese and lean people. PubMed: van den Berg et al 2010 - - Unknown - 45/174 - - - DNA SEQ - - Healthy/Control - - 10 homozygotes; 87 healthy unrelated individuals, unknown BMI; See supplementary Table S3 of van den Berg et al (2010) for more information. - - Morocco Northern Moroccan Berbers - - - - 65 Linda van den Berg
?/? ? c.-896C>T - p.(=) Unknown - VUS g.58040478G>A g.60373245G>A - - MC4R_000008 - - - rs8087522 Unknown - - - - - DNA ? - - Healthy/Control - - - - - - - - - - - 1 Linda van den Berg
?/? ? c.-896C>T - p.(=) Unknown - VUS g.58040478G>A g.60373245G>A - - MC4R_000008 - PubMed: Cole et al 2009 - - Unknown - - - - - DNA ? - - obesity - - - - - - - - - - - 1 Linda van den Berg
?/? ? c.-896C>T - p.(=) Unknown - VUS g.58040478G>A g.60373245G>A - - MC4R_000008 - Hapmap - - Unknown - - - - - DNA ? - - Healthy/Control - - - - - - - - - - - 1 Linda van den Berg
?/? ? c.-896C>T - p.(=) Unknown - VUS g.58040478G>A g.60373245G>A - - MC4R_000008 - PubMed: Liu et al 2007 - - Unknown - - - - - DNA ? - - Healthy/Control - - - - - - - - - - - 1 Linda van den Berg
?/? ? c.-896C>T - p.(=) Unknown - VUS g.58040478G>A g.60373245G>A - - MC4R_000008 - PubMed: Ma et al 2004 - - Unknown - - - - - DNA ? - - Healthy/Control - - - - - - - - - - - 1 Linda van den Berg
?/? ? c.-896C>T - p.(=) Unknown - VUS g.58040478G>A g.60373245G>A - - MC4R_000008 - PubMed: Ma et al 2004 - - Unknown - - - - - DNA ? - - obesity - - - - - - - - - - - 1 Linda van den Berg
-?/-? ? c.-896C>T r.(=) p.(=) Unknown - likely benign g.58040478G>A g.60373245G>A - - MC4R_000008 24 homozygotes; Polymorphism that has been detected in similar frequencies in obese and lean people. PubMed: van den Berg et al 2010 - - Unknown - 150/434 - - - DNA SEQ - - obesity - - 291 obese cases - - (Netherlands) - - - - - 150 Linda van den Berg
?/? ? c.-896C>T - p.(=) Unknown - VUS g.58040478G>A g.60373245G>A - - MC4R_000008 - PubMed: Valli-Jaakola et al 2004 - - Unknown - - - - - DNA ? - - obesity - - - - - - - - - - - 1 Linda van den Berg
?/? ? c.-896C>T - p.(=) Unknown - VUS g.58040478G>A g.60373245G>A - - MC4R_000008 - PubMed: Valli-Jaakola et al 2004 - - Unknown - - - - - DNA ? - - Healthy/Control - - - - - - - - - - - 1 Linda van den Berg
?/? ? c.-719G>A r.(=) p.(=) Unknown - VUS g.58040301C>T g.60373068C>T - - MC4R_000007 - PubMed: Valli-Jaakola et al 2004 - - Unknown - - - - - DNA ? - - Healthy/Control - - - - - - - - - - - 1 Linda van den Berg
?/? ? c.-719G>A - p.(=) Unknown - VUS g.58040301C>T g.60373068C>T - - MC4R_000007 - PubMed: Valli-Jaakola et al 2004 - - Unknown - - - - - DNA ? - - obesity - - - - - - - - - - - 1 Linda van den Berg
?/? ? c.-705A>T r.(=) p.(=) Parent #1 - VUS g.58040287T>A g.60373054T>A - - MC4R_000006 no homozygotes PubMed: van den Berg et al 2010 - - Unknown - 3/174 - - - DNA SEQ - - Healthy/Control - - 87 healthy unrelated individuals, unknown BMI; See supplementary Table S3 of van den Berg et al (2010) for more information. - - Morocco Northern Moroccan Berbers - - - - 3 Linda van den Berg
-?/-? ? c.-705A>T r.(=) p.(=) Maternal (confirmed) - likely benign g.58040287T>A g.60373054T>A - - MC4R_000006 no homozygotes; segregation analysis; The mutation was not predicted to destroy a TFBS by Core_TF. PubMed: van den Berg et al 2010 - - Unknown - 1/434 - - - DNA SEQ - - obesity - - 2-generation family, 4 obese, 3 carriers (mother, son, daugther) F - Morocco Northern Moroccan - - - - 3 Linda van den Berg
-?/-? ? c.-705A>T r.(=) p.(=) Unknown - likely benign g.58040287T>A g.60373054T>A - - MC4R_000006 The variant c.-705A>T is located in a putative cAMP responsive element according to an in silico analysis of Lubrano-Berthelier [2003]. We studied the effect of the c.-705A>T variant on promoter activity using a luciferase reporter gene assay. No significant difference between the wildtype and mutant promoter basal activity was observed. unpublished data van den Berg et al - - Unknown - - - - - - - - - - - - - - - - - - - - - - -
-?/-? ? c.-461A>G r.(=) p.(=) Paternal (confirmed) - likely benign g.58040043T>C g.60372810T>C - - MC4R_000005 no homozygotes; segregation analysis; not predicted to destroy TFBS and the involved nucleotide residues are not conserved in mammals PubMed: van den Berg et al 2010 - - Unknown - 1/434 - - - DNA SEQ - - obesity - - 2-generation family, obese father and daugther F - Netherlands Dutch - - - - 2 Linda van den Berg
?/? ? c.-439_-438del r.(=) p.(=) Unknown - VUS g.58040022_58040023del g.60372789_60372790del - - MC4R_000004 - PubMed: Valli-Jaakola et al 2004 - - Unknown - - - - - DNA ? - - Healthy/Control - - - - - - - - - - - 1 Linda van den Berg
?/? ? c.-439_-438del - p.(=) Unknown - VUS g.58040022_58040023del g.60372789_60372790del - - MC4R_000004 - PubMed: Valli-Jaakola et al 2004 - - Unknown - - - - - DNA ? - - obesity - - - - - - - - - - - 1 Linda van den Berg
?/? ? c.-439_-438del - p.(=) Unknown - VUS g.58040022_58040023del g.60372789_60372790del - - MC4R_000004 - PubMed: Valli-Jaakola et al 2006 - - Unknown - - - - - - - - - - - - - - - - - - - - - - -
?/? ? c.-439_-438del - p.(=) Unknown - VUS g.58040022_58040023del g.60372789_60372790del - - MC4R_000004 not in control chromosomes; segregation analysis PubMed: Valli-Jaakola et al 2006 - - Unknown - - - - - DNA ? - - obesity - - - - - - - - - - - 1 Linda van den Berg
?/? ? c.-386G>A r.(?) p.(=) Unknown - VUS g.58039968C>T g.60372735C>T - - MC4R_000078 - PubMed: Cole et al 2009 - - Unknown - - - - - DNA ? - - obesity - - - - - - - - - - - 1 Linda van den Berg
?/? ? c.-384dup r.(?) p.(=) Unknown - VUS g.58039966dup g.60372733dup - - MC4R_000077 - - - rs35351438 Unknown - - - - - DNA ? - - Healthy/Control - - - - - - - - - - - 1 Linda van den Berg
?/? ? c.-373T r.(?) p.(=) Parent #1 - VUS g.58039955G>A - - - MC4R_000074 Variant Error [EREF/ESYNTAX]: This genomic variant does not match the reference sequence; the transcript variant also has an error. Please fix this entry and then remove this message. PubMed: van den Berg et al 2010 - - Unknown - 1/174 - - - DNA SEQ - - Healthy/Control - - 87 healthy unrelated individuals, unknown BMI; See supplementary Table S3 of van den Berg et al (2010) for more information. - - Morocco Northern Moroccan Berbers - - - - 1 Linda van den Berg
?/? ? c.-360G>T r.(?) p.(=) Unknown - VUS g.58039942C>A g.60372709C>A - - MC4R_000072 - PubMed: Lubrano-Berthelier et al 2003 - - Unknown - - - - - DNA ? - - obesity - - - - - - - - - - - 1 Linda van den Berg
?/? ? c.-312T>C r.(?) p.(=) Paternal (confirmed) - VUS g.58039894A>G g.60372661A>G - - MC4R_000065 no homozygotes; segregation analysis; not predicted to destroy TFBS and the involved nucleotide residues are not conserved in mammals PubMed: van den Berg et al 2010 - - Unknown - 1/582 - - - DNA SEQ - - obesity - - 2-generation family, 3 obese, daugther and carrier father F - Netherlands Dutch - - - - 2 Linda van den Berg
?/? ? c.-216C>T r.(?) p.(=) Unknown - VUS g.58039798G>A g.60372565G>A - - MC4R_000047 - PubMed: Zhang et al 2007 - - Unknown - - - - - DNA ? - - Healthy/Control - - - - - - - - - - - 1 Linda van den Berg
?/? ? c.-216C>T r.(?) p.(=) Unknown - VUS g.58039798G>A g.60372565G>A - - MC4R_000047 - PubMed: Zhang et al 2007 - - Unknown - - - - - DNA ? - - obesity - - - - - - - - - - - 1 Linda van den Berg
?/? ? c.-213A>G r.(?) p.(=) Unknown - VUS g.58039795T>C g.60372562T>C - - MC4R_000046 no homozygotes; not predicted to destroy TFBS and the involved nucleotide residuesrnare not conserved in mammals PubMed: van den Berg et al 2010 - - Unknown - 1/582 - - - DNA SEQ - - obesity - - 291 obese cases M - Netherlands Dutch - - - - 1 Linda van den Berg
?/? ? c.-184G>A r.(?) p.(=) Unknown - VUS g.58039766C>T g.60372533C>T - - MC4R_000037 - PubMed: Jacobson et al 2002 - - Unknown - - - - - DNA ? - - Healthy/Control - - - - - - - - - - - 1 Linda van den Berg
-?/-? ? c.-178A>C r.(?) p.(=) Unknown - likely benign g.58039760T>G g.60372527T>G - - MC4R_000035 Polymorphism that has been detected in similar frequencies in obese and lean people. PubMed: van den Berg et al 2010 - - Unknown - 3/174 - - - DNA SEQ - - Healthy/Control - - 87 healthy unrelated individuals, unknown BMI; See supplementary Table S3 of van den Berg et al (2010) for more information. - - Morocco Northern Moroccan Berbers - - - - 3 Linda van den Berg
?/? ? c.-178A>C r.(?) p.(=) Unknown - VUS g.58039760T>G g.60372527T>G - - MC4R_000035 - - - rs34114122 Unknown - - - - - DNA ? - - Healthy/Control - - - - - - - - - - - 1 Linda van den Berg
?/? ? c.-178A>C r.(?) p.(=) Unknown - VUS g.58039760T>G g.60372527T>G - - MC4R_000035 - PubMed: Alharbi et al 2007 - - Unknown - - - - - DNA ? - - Healthy/Control - - - - - - - - - - - 1 Linda van den Berg
?/? ? c.-178A>C r.(?) p.(=) Unknown - VUS g.58039760T>G g.60372527T>G - - MC4R_000035 - PubMed: Alharbi et al 2007 - - Unknown - - - - - DNA ? - - obesity - - - - - - - - - - - 1 Linda van den Berg
?/? ? c.-178A>C r.(?) p.(=) Unknown - VUS g.58039760T>G g.60372527T>G - - MC4R_000035 - PubMed: Cole et al 2009 - - Unknown - - - - - DNA ? - - obesity - - - - - - - - - - - 1 Linda van den Berg
?/? ? c.-178A>C r.(?) p.(=) Unknown - VUS g.58039760T>G g.60372527T>G - - MC4R_000035 - PubMed: Jacobson et al 2002 - - Unknown - - - - - DNA ? - - Healthy/Control - - - - - - - - - - - 1 Linda van den Berg
?/? ? c.-178A>C r.(?) p.(=) Unknown - VUS g.58039760T>G g.60372527T>G - - MC4R_000035 - PubMed: Jacobson et al 2002 - - Unknown - - - - - DNA ? - - obesity - - - - - - - - - - - 1 Linda van den Berg
?/? ? c.-178A>C r.(?) p.(=) Unknown - VUS g.58039760T>G g.60372527T>G - - MC4R_000035 - PubMed: Lubrano-Berthelier et al 2003 - - Unknown - - - - - DNA ? - - obesity - - - - - - - - - - - 1 Linda van den Berg
-?/-? ? c.-178A>C r.(?) p.(=) Unknown - likely benign g.58039760T>G g.60372527T>G - - MC4R_000035 no homozygotes; Polymorphism that has been detected in similar frequencies in obese and lean people. PubMed: van den Berg et al 2010 - - Unknown - 21/582 - - - DNA SEQ - - obesity - - 291 obese cases - - (Netherlands) - - - - - 21 Linda van den Berg
?/? ? c.-178A>C r.(?) p.(=) Unknown - VUS g.58039760T>G g.60372527T>G - - MC4R_000035 - PubMed: Rong et al 2006 - - Unknown - - - - - DNA ? - - Healthy/Control - - - - - - - - - - - 1 Linda van den Berg
?/? ? c.-178A>C r.(?) p.(=) Unknown - VUS g.58039760T>G g.60372527T>G - - MC4R_000035 - PubMed: Rong et al 2006 - - Unknown - - - - - DNA ? - - obesity - - - - - - - - - - - 1 Linda van den Berg
?/? ? c.-178A>C r.(?) p.(=) Unknown - VUS g.58039760T>G g.60372527T>G - - MC4R_000035 - PubMed: Zhang et al 2007 - - Unknown - - - - - DNA ? - - Healthy/Control - - - - - - - - - - - 1 Linda van den Berg
?/? ? c.-178A>C r.(?) p.(=) Unknown - VUS g.58039760T>G g.60372527T>G - - MC4R_000035 - PubMed: Zhang et al 2007 - - Unknown - - - - - DNA ? - - obesity - - - - - - - - - - - 1 Linda van den Berg
-?/. - c.-178A>C r.(=) p.(=) Parent #1 - likely benign g.58039760T>G g.60372527T>G - - MC4R_000035 202 heterozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs34114122 Germline - 202/2793 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 202 Mohammed Faruq
-?/. - c.-178A>C r.(=) p.(=) Both (homozygous) - likely benign g.58039760T>G g.60372527T>G - - MC4R_000035 3 homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs34114122 Germline - 3/2793 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 3 Mohammed Faruq
?/? ? c.-176A>G r.(?) p.(=) Unknown - VUS g.58039758T>C g.60372525T>C - - MC4R_000034 no homozygotes; We did not predict an effect on transcription factor binding for c.-176A>G and the residue is not conserved. PubMed: van den Berg et al 2010 - - Unknown - 2/582 - - - DNA SEQ - - obesity - - 291 obese cases F - Ghana Ghanese - - - - 1 Linda van den Berg
?/? ? c.-176A>G r.(?) p.(=) Parent #2 - VUS g.58039758T>C g.60372525T>C - - MC4R_000034 no homozygotes PubMed: van den Berg et al 2010 - - Unknown - 2/582 - - - DNA SEQ - - obesity - - 291 obese cases F - Suriname Surinam - - - - 1 Linda van den Berg
?/? ? c.-176A>G r.(?) p.(=) Unknown - VUS g.58039758T>C g.60372525T>C - - MC4R_000034 - PubMed: Lubrano-Berthelier et al 2003 - - Unknown - - - - - DNA ? - - obesity - - - - - - - - - - - 1 Linda van den Berg
?/? ? c.-65_-64del r.(?) p.(=) Unknown - VUS g.58039646_58039647del g.60372413_60372414del - - MC4R_000131 not in control chromosomes PubMed: Jacobson et al 2002 - - Unknown - - - - - DNA ? - - obesity - - - - - - - - - - - 1 Linda van den Berg
?/? ? c.-59G>A r.(?) p.(=) Unknown - VUS g.58039641C>T g.60372408C>T - - MC4R_000123 - PubMed: Hughes et al 2009 - - Unknown - - - - - DNA ? - - Healthy/Control - - - - - - - - - - - 1 Linda van den Berg
?/? ? c.(?) r.(?) p.(?) Unknown - VUS g.? - I125K - MC4R_000208 not in control chromosomes; segregation analysis PubMed: Farooqi et al 2003 - - Unknown - - - - - DNA ? - - obesity - - - - - - - - - - - 1 Linda van den Berg
?/? ? c.(?) r.(?) p.(?) Unknown - VUS g.? - I125K - MC4R_000208 not in control chromosomes PubMed: Tan et al 2009 - - Unknown - - - - - DNA ? - - obesity - - - - - - - - - - - 1 Linda van den Berg
?/? ? c.(?) r.(?) p.(?) Unknown - VUS g.? - I125K - MC4R_000208 - PubMed: Yeo et al 2003 - - Unknown - - - - - DNA ? - - obesity - - - - - - - - - - - 1 Linda van den Berg
?/? ? c.(?) r.? p.(?) Unknown - VUS g.? - - - MC4R_000207 - PubMed: Beckers et al 2010 - - Unknown - - - - - DNA ? - - obesity - - - - - - - - - - - 1 Linda van den Berg
?/? ? c.(?) r.? p.(?) Unknown - VUS g.? - - - MC4R_000206 not in control chromosomes; segregation analysis PubMed: Beckers et al 2010 - - Unknown - - - - - DNA ? - - obesity - - - - - - - - - - - 1 Linda van den Berg
?/? ? c.(?) r.? p.(?) Unknown - VUS g.? - - - MC4R_000206 - PubMed: Beckers et al 2010 - - Unknown - - - - - - - - - - - - - - - - - - - - - - -
?/? ? c.(?) r.? p.(?) Unknown - VUS g.? - - - MC4R_000207 - - - - Unknown - - - - - - - - - - - - - - - - - - - - - - -
-/- ? c.= r.= p.(?) Unknown - benign g.? - - - MC4R_000000 normal 2nd chromosome; Core_TF predicted the loss of a PAX6-01 recognition site as a result of this mutation. This PAX6-01 recognition site is conserved in chimpanzee, gorilla, and macaque (see Supplementary Figure S3 online in the paper of van den Berg , 2010). - - - Unknown - 1/434 - - - DNA SEQ - - obesity - - 291 obese cases F - Netherlands Dutch - - - - 1 Linda van den Berg
?/? ? c.? r.(?) p.(?) Unknown - VUS g.? - A144L - MC4R_000010 - PubMed: Dubern et al 2007 - - Unknown - - - - - DNA ? - - obesity - - - - - - - - - - - 1 Linda van den Berg
?/. - c.1A>G r.(?) p.? Unknown - VUS g.58039582T>C - MC4R(NM_005912.3):c.1A>G (p.M1?) - MC4R_000231 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.4G>C r.(?) p.(Val2Leu) Unknown - likely benign g.58039579C>G - MC4R(NM_005912.3):c.4G>C (p.(Val2Leu)) - MC4R_000228 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/? ? c.11C>T r.(?) p.(Ser4Phe) Unknown - VUS g.58039572G>A g.60372339G>A - - MC4R_000022 - PubMed: Calton et al 2009 - - Unknown - - - - - - - - - - - - - - - - - - - - - - -
?/? ? c.11C>T r.(?) p.(Ser4Phe) Unknown - VUS g.58039572G>A g.60372339G>A - - MC4R_000022 not in control chromosomes PubMed: Calton et al 2009 - - Unknown - - - - - DNA ? - - obesity - - - - - - - - - - - 1 Linda van den Berg
?/? ? c.15C>T r.(?) p.(=) Unknown - VUS g.58039568G>A g.60372335G>A - - MC4R_000028 not in control chromosomes PubMed: Branson et al 2003 - - Unknown - - - - - DNA ? - - obesity - - - - - - - - - - - 1 Linda van den Berg
?/? ? c.15C>T r.(?) p.(=) Unknown - VUS g.58039568G>A g.60372335G>A - - MC4R_000028 - PubMed: Potoczna et al 2004 - - Unknown - - - - - DNA ? - - obesity - - - - - - - - - - - 1 Linda van den Berg
?/? ? c.(18_21)insG r.(?) p.(?) Unknown - VUS g.(58039562_58039565)insC - ins G at codon 7 - MC4R_000000 not in control chromosomes Variant Error [ESYNTAX]: This genomic variant has an error (insertion length must be 1). Please fix this entry and then remove this message. PubMed: Tan et al 2009 - - Unknown - - - - - DNA ? - - obesity - - - - - - - - - - - 1 Linda van den Berg
?/? ? c.19C>T r.(?) p.(Arg7Cys) Unknown - VUS g.58039564G>A g.60372331G>A - - MC4R_000039 - PubMed: Fan and Tao 2009 - - Unknown - - - - - - - - - - - - - - - - - - - - - - -
?/? ? c.19C>T r.(?) p.(Arg7Cys) Unknown - VUS g.58039564G>A g.60372331G>A - - MC4R_000039 segregation analysis PubMed: Hainerova et al 2007 - - Unknown - - - - - DNA ? - - obesity - - - - - - - - - - - 1 Linda van den Berg
?/? ? c.19C>T r.(?) p.(Arg7Cys) Unknown - VUS g.58039564G>A g.60372331G>A - - MC4R_000039 - PubMed: Hinney et al 2006 - - Unknown - - - - - - - - - - - - - - - - - - - - - - -
?/? ? c.19C>T r.(?) p.(Arg7Cys) Unknown - VUS g.58039564G>A g.60372331G>A - - MC4R_000039 not in control chromosomes PubMed: Hinney et al 2006 - - Unknown - - - - - DNA ? - - obesity - - - - - - - - - - - 1 Linda van den Berg
?/? ? c.19C>T r.(?) p.(Arg7Cys) Unknown - VUS g.58039564G>A g.60372331G>A - - MC4R_000039 - PubMed: Hughes et al 2009 - - Unknown - - - - - DNA ? - - Healthy/Control - - - - - - - - - - - 1 Linda van den Berg
?/? ? c.19C>T r.(?) p.(Arg7Cys) Unknown - VUS g.58039564G>A g.60372331G>A - - MC4R_000039 - PubMed: Hughes et al 2009 - - Unknown - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.19C>T r.(?) p.(Arg7Cys) Unknown - VUS g.58039564G>A - MC4R(NM_005912.3):c.19C>T (p.R7C) - MC4R_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.20G>A r.(?) p.(Arg7His) Unknown - pathogenic g.58039563C>T g.60372330C>T MC4R(NM_005912.3):c.20G>A (p.R7H) - MC4R_000045 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/? ? c.20G>A r.(?) p.(Arg7His) Unknown - VUS g.58039563C>T g.60372330C>T - - MC4R_000045 - PubMed: Lubrano-Berthelier et al 2003 - - Unknown - - - - - DNA ? - - obesity - - - - - - - - - - - 1 Linda van den Berg
?/? ? c.20G>A r.(?) p.(Arg7His) Unknown - VUS g.58039563C>T g.60372330C>T - - MC4R_000045 - PubMed: Srinivasan et al 2004 - - Unknown - - - - - - - - - - - - - - - - - - - - - - -
?/? ? c.20G>A r.(?) p.(Arg7His) Unknown - VUS g.58039563C>T g.60372330C>T - - MC4R_000045 - PubMed: Xiang et al 2010 - - Unknown - - - - - - - - - - - - - - - - - - - - - - -
?/? ? c.24G>A r.(?) p.(=) Unknown - VUS g.58039559C>T g.60372326C>T - - MC4R_000051 - PubMed: Roldan Martin et al 2004 - - Unknown - - - - - DNA ? - - Healthy/Control - - - - - - - - - - - 1 Linda van den Berg
-?/. - c.24G>A r.(?) p.(=) Unknown - likely benign g.58039559C>T - MC4R(NM_005912.3):c.24G>A (p.G8=) - MC4R_000051 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/? ? c.31A>G r.(?) p.(Thr11Ala) Unknown - VUS g.58039552T>C g.60372319T>C - - MC4R_000067 not in control chromosomes PubMed: Branson et al 2003 - - Unknown - - - - - DNA ? - - obesity - - - - - - - - - - - 1 Linda van den Berg
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