ClinVar

NM_001283009.2(RTEL1):c.1761G>A (p.Pro587=)

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: 63688566 (on Assembly GRCh38)
• Chr20: 62319919 (on Assembly GRCh37)

Preferred name:

NM_001283009.2(RTEL1):c.1761G>A (p.Pro587=)

HGVS:

• NC_000020.11:g.63688566G>A
• NG_033901.1:g.35757G>A
• NM_001283009.2:c.1761G>AMANE SELECT
• NM_001283010.1:c.1092G>A
• NM_016434.4:c.1761G>A
• NM_032957.5:c.1833G>A
• NP_001269938.1:p.Pro587=
• NP_001269938.1:p.Pro587=
• NP_001269939.1:p.Pro364=
• NP_057518.1:p.Pro587=
• NP_116575.3:p.Pro611=
• NP_116575.3:p.Pro611=
• LRG_1149t1:c.1833G>A
• LRG_1149t2:c.1761G>A
• LRG_1149t3:c.1761G>A
• LRG_1149:g.35757G>A
• LRG_1149p1:p.Pro611=
• LRG_1149p2:p.Pro587=
• LRG_1149p3:p.Pro587=
• NC_000020.10:g.62319919G>A
• NM_001283009.1:c.1761G>A
• NM_032957.4:c.1833G>A
• NR_037882.1:n.2588G>A

This HGVS expression did not pass validation

Links:

dbSNP: rs116900568

NCBI 1000 Genomes Browser:

rs116900568

Molecular consequence:

• NR_037882.1:n.2588G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NM_001283009.2:c.1761G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001283010.1:c.1092G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_016434.4:c.1761G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_032957.5:c.1833G>A - synonymous variant - [Sequence Ontology: SO:0001819]