Variant ID: 16-56548501-C-T


This variant was identified in 9 publications


Pervasive Inter-Individual Variation in Allele-Specific Expression in Monozygotic Twins.

Frontiers In Genetics
R da Silva Francisco Junior, C Dos Santos Ferreira, JC Santos E Silva, D Terra Machado, Y Côrtes Martins, V Ramos, G Simões Carnivali, AB Garcia, E Medina-Acosta
Publication Date: 2019

Variant appearance in text: rs4784677
PMID: 31850058
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hg19KIndel: ethnicity normalized human reference genome.

Bmc Genomics
HG Shukla, PS Bawa, S Srinivasan
Publication Date: 2019-06-06

Variant appearance in text: rs4784677
PMID: 31170919
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Super-Obese Patient-Derived iPSC Hypothalamic Neurons Exhibit Obesogenic Signatures and Hormone Responses.

Cell Stem Cell
U Rajamani, AR Gross, BE Hjelm, A Sequeira, MP Vawter, J Tang, V Gangalapudi, Y Wang, AM Andres, RA Gottlieb, D Sareen
Publication Date: 2018-05-03

Variant appearance in text: rs4784677
PMID: 29681516
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Challenges imposed by minor reference alleles on the identification and reporting of clinical variants from exome data.

Bmc Genomics
M Koko, MOE Abdallah, M Amin, M Ibrahim
Publication Date: 2018-01-15

Variant appearance in text: rs4784677
PMID: 29334895
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The Use of Non-Variant Sites to Improve the Clinical Assessment of Whole-Genome Sequence Data.

Plos One
A Ferrarini, L Xumerle, F Griggio, M Garonzi, C Cantaloni, C Centomo, SM Vargas, P Descombes, J Marquis, S Collino, C Franceschi, P Garagnani, BA Salisbury, JM Harvey, M Delledonne
Publication Date: 2015

Variant appearance in text: rs4784677
PMID: 26147798
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VaRank: a simple and powerful tool for ranking genetic variants.

V Geoffroy, C Pizot, C Redin, A Piton, N Vasli, C Stoetzel, A Blavier, J Laporte, J Muller
Publication Date: 2015

Variant appearance in text: rs4784677
PMID: 25780760
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Ocular Phenotype of a Family with FAM161A-associated Retinal Degeneration.

Ophthalmic Genetics
JL Duncan, P Biswas, I Kozak, M Navani, R Syed, S Soudry, M Menghini, RC Caruso, BG Jeffrey, JR Heckenlively, GB Reddy, P Lee, A Roorda, R Ayyagari
Publication Date: 2016

Variant appearance in text: rs4784677
PMID: 25007332
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Exome sequencing identifies a novel and a recurrent BBS1 mutation in Pakistani families with Bardet-Biedl syndrome.

Molecular Vision
M Ajmal, MI Khan, K Neveling, A Tayyab, S Jaffar, A Sadeque, H Ayub, NM Abbasi, M Riaz, S Micheal, C Gilissen, SH Ali, M Azam, RW Collin, FP Cremers, R Qamar
Publication Date: 2013

Variant appearance in text: rs4784677
PMID: 23559858
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Targeted high-throughput sequencing for diagnosis of genetically heterogeneous diseases: efficient mutation detection in Bardet-Biedl and Alström syndromes.

Journal Of Medical Genetics
C Redin, S Le Gras, O Mhamdi, V Geoffroy, C Stoetzel, MC Vincent, P Chiurazzi, D Lacombe, I Ouertani, F Petit, M Till, A Verloes, B Jost, HB Chaabouni, H Dollfus, JL Mandel, J Muller
Publication Date: 2012-08

Variant appearance in text: rs4784677
PMID: 22773737
View BVdb publication page

Alternative transcript annotations:

Transcript cDNA Protein Consequence Exon Intron
ENST00000245157.5 c.209G>A p.Ser70Asn missense_variant 2/17 -
ENST00000565378.1 n.192G>A - non_coding_transcript_exon_variant 2/5 -
ENST00000565781.1 n.223G>A - non_coding_transcript_exon_variant 2/12 -
ENST00000566689.1 n.200G>A - non_coding_transcript_exon_variant 2/5 -
ENST00000568104.1 c.209G>A p.Ser70Asn missense_variant 2/16 -
ENST00000569342.1 n.343G>A - non_coding_transcript_exon_variant 2/9 -
ENST00000569941.1 c.-389G>A - 5_prime_UTR_variant 2/5 -
NM_031885.4 c.209G>A p.Asn70= synonymous_variant 2/17 -