ClinVar

NM_001283009.2(RTEL1):c.1940C>T (p.Pro647Leu)

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: 63689563 (on Assembly GRCh38)
• Chr20: 62320916 (on Assembly GRCh37)

Preferred name:

NM_001283009.2(RTEL1):c.1940C>T (p.Pro647Leu)

Other names:

p.Pro647Leu

HGVS:

• NC_000020.11:g.63689563C>T
• NG_033901.1:g.36754C>T
• NM_001283009.2:c.1940C>TMANE SELECT
• NM_001283010.1:c.1271C>T
• NM_016434.4:c.1940C>T
• NM_032957.5:c.2012C>T
• NP_001269938.1:p.Pro647Leu
• NP_001269939.1:p.Pro424Leu
• NP_057518.1:p.Pro647Leu
• NP_116575.3:p.Pro671Leu
• NP_116575.3:p.Pro671Leu
• LRG_1149t1:c.2012C>T
• LRG_1149t2:c.1940C>T
• LRG_1149t3:c.1940C>T
• LRG_1149:g.36754C>T
• LRG_1149p1:p.Pro671Leu
• LRG_1149p2:p.Pro647Leu
• LRG_1149p3:p.Pro647Leu
• NC_000020.10:g.62320916C>T
• NM_032957.4:c.2012C>T
• NR_037882.1:n.2767C>T

This HGVS expression did not pass validation

Protein change:

P424L

Links:

dbSNP: rs1177091623

NCBI 1000 Genomes Browser:

rs1177091623

Molecular consequence:

• NM_001283009.2:c.1940C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001283010.1:c.1271C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_016434.4:c.1940C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_032957.5:c.2012C>T - missense variant - [Sequence Ontology: SO:0001583]
• NR_037882.1:n.2767C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]