ClinVar

NM_001283009.2(RTEL1):c.704G>A (p.Arg235His)

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: 63672560 (on Assembly GRCh38)
• Chr20: 62303913 (on Assembly GRCh37)

Preferred name:

NM_001283009.2(RTEL1):c.704G>A (p.Arg235His)

Other names:

p.Arg235His

HGVS:

• NC_000020.11:g.63672560G>A
• NG_033901.1:g.19751G>A
• NM_001283009.2:c.704G>AMANE SELECT
• NM_001283010.1:c.35G>A
• NM_016434.4:c.704G>A
• NM_032957.5:c.776G>A
• NP_001269938.1:p.Arg235His
• NP_001269939.1:p.Arg12His
• NP_057518.1:p.Arg235His
• NP_116575.3:p.Arg259His
• LRG_1149t1:c.776G>A
• LRG_1149t2:c.704G>A
• LRG_1149t3:c.704G>A
• LRG_1149:g.19751G>A
• LRG_1149p1:p.Arg259His
• LRG_1149p2:p.Arg235His
• LRG_1149p3:p.Arg235His
• NC_000020.10:g.62303913G>A
• NM_032957.4:c.776G>A
• NR_037882.1:n.1531G>A
• p.Arg259His

This HGVS expression did not pass validation

Protein change:

R12H

Links:

dbSNP: rs549397879

NCBI 1000 Genomes Browser:

rs549397879

Molecular consequence:

• NM_001283009.2:c.704G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001283010.1:c.35G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_016434.4:c.704G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_032957.5:c.776G>A - missense variant - [Sequence Ontology: SO:0001583]
• NR_037882.1:n.1531G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Observations:

1