Full data view for gene MRPL49

Information The variants shown are described using the NM_004927.3 transcript reference sequence.

22 entries on 1 page. Showing entries 1 - 22.
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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.-5064G>A r.(?) p.(=) Unknown - VUS g.64884755G>A - ZNHIT2(NM_014205.4):c.371C>T (p.P124L) - FAU_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.125_126del r.(?) p.(Val42GlyfsTer2) Parent #2 - likely pathogenic (recessive) g.64892020_64892021del g.65124548_65124549del 125_126delTG - MRPL49_000003 - PubMed: Thomas 2025 - - Germline - - - - - DNA SEQ, SEQ-NG - - ? Fam8PatII1 PubMed: Thomas 2025 2-generation family, 1 affected (deceased), unaffected heterozygous carrier parents F no Australia - - - - - 1 Johan den Dunnen
+?/. - c.262C>T r.(?) p.(Arg88Cys) Both (homozygous) - likely pathogenic (recessive) g.64892992C>T g.65125520C>T - - MRPL49_000002 - PubMed: Thomas 2025 - - Germline - - - - - DNA SEQ, SEQ-NG - - ? Fam3PatII1 PubMed: Thomas 2025 2-generation family, 1 affected, unaffected heterozygous carrier parents M yes India - - - - - 1 Johan den Dunnen
+?/. - c.262C>T r.(?) p.(Arg88Cys) Both (homozygous) - likely pathogenic (recessive) g.64892992C>T g.65125520C>T - - MRPL49_000002 - PubMed: Thomas 2025 - - Germline - - - - - DNA SEQ, SEQ-NG - - ? Fam4PatII1 PubMed: Thomas 2025 2-generation family, 2 affected sisters, unaffected heterozygous carrier parents F yes Turkey - - - - - 2 Johan den Dunnen
+?/. - c.262C>T r.(?) p.(Arg88Cys) Both (homozygous) - likely pathogenic (recessive) g.64892992C>T g.65125520C>T - - MRPL49_000002 - PubMed: Thomas 2025 - - Germline - - - - - DNA SEQ, SEQ-NG - - ? Fam4PatII2 PubMed: Thomas 2025 sister F yes Turkey - - - - - 1 Johan den Dunnen
+?/. - c.262C>T r.(?) p.(Arg88Cys) Both (homozygous) - likely pathogenic (recessive) g.64892992C>T g.65125520C>T - - MRPL49_000002 - PubMed: Thomas 2025 - - Germline - - - - - DNA SEQ, SEQ-NG - - ? Fam5PatII2 PubMed: Thomas 2025 2-generation family, 1 affected, unaffected heterozygous carrier parents F no Turkey - - - - - 1 Johan den Dunnen
+?/. - c.262C>T r.(?) p.(Arg88Cys) Both (homozygous) - likely pathogenic (recessive) g.64892992C>T g.65125520C>T - - MRPL49_000002 - PubMed: Thomas 2025 - - Germline - - - - - DNA SEQ, SEQ-NG - - ? Fam6PatII1 PubMed: Thomas 2025 2-generation family, 1 affected, unaffected heterozygous carrier parents F yes Iran - - - - - 1 Johan den Dunnen
+?/. - c.262C>T r.(?) p.(Arg88Cys) Both (homozygous) - likely pathogenic (recessive) g.64892992C>T g.65125520C>T - - MRPL49_000002 - PubMed: Thomas 2025 - - Germline - - - - - DNA SEQ, SEQ-NG - - ? Fam7PatII1 PubMed: Thomas 2025 2-generation family, 1 affected, unaffected heterozygous carrier parents M yes Pakistan - - - - - 1 Johan den Dunnen
+?/. - c.262C>T r.(?) p.(Arg88Cys) Parent #1 - likely pathogenic (recessive) g.64892992C>T g.65125520C>T - - MRPL49_000002 - PubMed: Thomas 2025 - - Germline - - - - - DNA SEQ, SEQ-NG - - ? Fam8PatII1 PubMed: Thomas 2025 2-generation family, 1 affected (deceased), unaffected heterozygous carrier parents F no Australia - - - - - 1 Johan den Dunnen
+/. - c.262C>T r.(?) p.(Arg88Cys) Both (homozygous) - likely pathogenic (recessive) g.64892992C>T g.65125520C>T - - MRPL49_000002 - PubMed: Thomas 2025 - - Germline - - - - - DNA SEQ, SEQ-NG - WES ? FamPatIII5 PubMed: Shao 2016, PubMed: Thomas 2025 3-generation family, 1 affected, unaffected heterozygous carrier parents/relatives F yes Turkey - - - - - 1 Johan den Dunnen
+?/. - c.263G>A r.(?) p.(Arg88His) Both (homozygous) - likely pathogenic (recessive) g.64892993G>A g.65125521G>A - - MRPL49_000004 - PubMed: Thomas 2025 - - Germline - - - - - DNA SEQ, SEQ-NG - - ? Fam9PatII1 PubMed: Thomas 2025 2-generation family, 2 affected brothers, unaffected heterozygous carrier parents M yes Saudi Arabia - - - - - 2 Johan den Dunnen
+?/. - c.263G>A r.(?) p.(Arg88His) Both (homozygous) - likely pathogenic (recessive) g.64892993G>A g.65125521G>A - - MRPL49_000004 - PubMed: Thomas 2025 - - Germline - - - - - DNA SEQ, SEQ-NG - - ? Fam9PatII2 PubMed: Thomas 2025 brother M yes Saudi Arabia - - - - - 1 Johan den Dunnen
+?/. - c.275A>C r.(?) p.(His92Pro) Both (homozygous) - likely pathogenic (recessive) g.64893005A>C g.65125533A>C - - MRPL49_000005 - PubMed: Thomas 2025 - - Germline - - - - - DNA SEQ, SEQ-NG - - ? Fam1PatII1 PubMed: Thomas 2025 2-generation family, 2 affected sisters, unaffected heterozygous carrier parents F yes United Kingdom (Great Britain) Pakistan - - - - 2 Johan den Dunnen
+?/. - c.275A>C r.(?) p.(His92Pro) Both (homozygous) - likely pathogenic (recessive) g.64893005A>C g.65125533A>C - - MRPL49_000005 - PubMed: Thomas 2025 - - Germline - - - - - DNA SEQ, SEQ-NG - - ? Fam1PatII2 PubMed: Thomas 2025 sister F yes United Kingdom (Great Britain) Pakistan - - - - 1 Johan den Dunnen
+?/. - c.275A>C r.(?) p.(His92Pro) Both (homozygous) - likely pathogenic (recessive) g.64893005A>C g.65125533A>C - - MRPL49_000005 - PubMed: Thomas 2025 - - Germline - - - - - DNA SEQ, SEQ-NG - - ? Fam2PatII2 PubMed: Thomas 2025 2-generation family, 3 affected sibs (2F, M), unaffected heterozygous carrier parents M yes Pakistan - - - - - 3 Johan den Dunnen
+?/. - c.275A>C r.(?) p.(His92Pro) Both (homozygous) - likely pathogenic (recessive) g.64893005A>C g.65125533A>C - - MRPL49_000005 - PubMed: Thomas 2025 - - Germline - - - - - DNA SEQ, SEQ-NG - - ? Fam2PatII3 PubMed: Thomas 2025 sister F yes Pakistan - - - - - 1 Johan den Dunnen
+?/. - c.275A>C r.(?) p.(His92Pro) Both (homozygous) - likely pathogenic (recessive) g.64893005A>C g.65125533A>C - - MRPL49_000005 - PubMed: Thomas 2025 - - Germline - - - - - DNA SEQ, SEQ-NG - - ? Fam2PatII6 PubMed: Thomas 2025 sister (deceased) F yes Pakistan - - - - - 1 Johan den Dunnen
?/. - c.431C>G r.(?) p.(Thr144Arg) Unknown - VUS g.64893274C>G g.65125802C>G MRPL49(NM_004927.3):c.431C>G (p.(Thr144Arg)) - MRPL49_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*2548G>A r.(=) p.(=) Unknown - VUS g.64895892G>A g.65128420G>A SYVN1(NM_172230.2):c.1816C>T (p.(Arg606Cys)) - SYVN1_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*5065T>G r.(=) p.(=) Unknown - likely benign g.64898409T>G g.65130938T>G SYVN1(NM_032431.2):c.923A>C (p.(Asn308Thr)) - SYVN1_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*5122T>G r.(=) p.(=) Unknown - likely benign g.64898466T>G g.65130995T>G SYVN1(NM_032431.2):c.866A>C (p.(Asn289Thr)) - SYVN1_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*7615C>G r.(=) p.(=) Unknown - VUS g.64900959C>G g.65133488C>G SYVN1(NM_032431.2):c.114G>C (p.(Lys38Asn)) - SYVN1_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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