ClinVar

NM_001283009.2(RTEL1):c.702C>T (p.Ser234=)

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: 63672558 (on Assembly GRCh38)
• Chr20: 62303911 (on Assembly GRCh37)

Preferred name:

NM_001283009.2(RTEL1):c.702C>T (p.Ser234=)

HGVS:

• NC_000020.11:g.63672558C>T
• NG_033901.1:g.19749C>T
• NM_001283009.2:c.702C>TMANE SELECT
• NM_001283010.1:c.33C>T
• NM_016434.4:c.702C>T
• NM_032957.5:c.774C>T
• NP_001269938.1:p.Ser234=
• NP_001269939.1:p.Ser11=
• NP_057518.1:p.Ser234=
• NP_116575.3:p.Ser258=
• LRG_1149t1:c.774C>T
• LRG_1149t2:c.702C>T
• LRG_1149t3:c.702C>T
• LRG_1149:g.19749C>T
• LRG_1149p1:p.Ser258=
• LRG_1149p2:p.Ser234=
• LRG_1149p3:p.Ser234=
• NC_000020.10:g.62303911C>T
• NR_037882.1:n.1529C>T

This HGVS expression did not pass validation

Molecular consequence:

• NR_037882.1:n.1529C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NM_001283009.2:c.702C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001283010.1:c.33C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_016434.4:c.702C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_032957.5:c.774C>T - synonymous variant - [Sequence Ontology: SO:0001819]