ClinVar

NM_001283009.2(RTEL1):c.3130C>T (p.Gln1044Ter)

Genes:

RTEL1-TNFRSF6B:RTEL1-TNFRSF6B readthrough (NMD candidate) [Gene - HGNC]
RTEL1:regulator of telomere elongation helicase 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

20q13.33

Genomic location:

• Chr20: 63694761 (on Assembly GRCh38)
• Chr20: 62326114 (on Assembly GRCh37)

Preferred name:

NM_001283009.2(RTEL1):c.3130C>T (p.Gln1044Ter)

HGVS:

• NC_000020.11:g.63694761C>T
• NG_033901.1:g.41952C>T
• NG_046961.1:g.3111C>T
• NM_001283009.2:c.3130C>TMANE SELECT
• NM_001283010.1:c.2461C>T
• NM_016434.4:c.3130C>T
• NM_032957.5:c.3202C>T
• NP_001269938.1:p.Gln1044Ter
• NP_001269939.1:p.Gln821Ter
• NP_057518.1:p.Gln1044Ter
• NP_116575.3:p.Gln1068Ter
• NP_116575.3:p.Gln1068Ter
• LRG_1149t1:c.3202C>T
• LRG_1149t2:c.3130C>T
• LRG_1149t3:c.3130C>T
• LRG_1149:g.41952C>T
• LRG_1149p1:p.Gln1068Ter
• LRG_1149p2:p.Gln1044Ter
• LRG_1149p3:p.Gln1044Ter
• NC_000020.10:g.62326114C>T
• NM_032957.4:c.3202C>T
• NR_037882.1:n.3957C>T

This HGVS expression did not pass validation

Protein change:

Q1044*

Links:

dbSNP: rs1415449695

NCBI 1000 Genomes Browser:

rs1415449695

Molecular consequence:

• NR_037882.1:n.3957C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NM_001283009.2:c.3130C>T - nonsense - [Sequence Ontology: SO:0001587]
• NM_001283010.1:c.2461C>T - nonsense - [Sequence Ontology: SO:0001587]
• NM_016434.4:c.3130C>T - nonsense - [Sequence Ontology: SO:0001587]
• NM_032957.5:c.3202C>T - nonsense - [Sequence Ontology: SO:0001587]