ClinVar

NM_001283009.2(RTEL1):c.714C>T (p.His238=)

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: 63672570 (on Assembly GRCh38)
• Chr20: 62303923 (on Assembly GRCh37)

Preferred name:

NM_001283009.2(RTEL1):c.714C>T (p.His238=)

HGVS:

• NC_000020.11:g.63672570C>T
• NG_033901.1:g.19761C>T
• NM_001283009.2:c.714C>TMANE SELECT
• NM_001283010.1:c.45C>T
• NM_016434.4:c.714C>T
• NM_032957.5:c.786C>T
• NP_001269938.1:p.His238=
• NP_001269939.1:p.His15=
• NP_057518.1:p.His238=
• NP_116575.3:p.His262=
• LRG_1149t1:c.786C>T
• LRG_1149t2:c.714C>T
• LRG_1149t3:c.714C>T
• LRG_1149:g.19761C>T
• LRG_1149p1:p.His262=
• LRG_1149p2:p.His238=
• LRG_1149p3:p.His238=
• NC_000020.10:g.62303923C>T
• NR_037882.1:n.1541C>T

This HGVS expression did not pass validation

Links:

dbSNP: rs372078666

NCBI 1000 Genomes Browser:

rs372078666

Molecular consequence:

• NR_037882.1:n.1541C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NM_001283009.2:c.714C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001283010.1:c.45C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_016434.4:c.714C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_032957.5:c.786C>T - synonymous variant - [Sequence Ontology: SO:0001819]