ClinVar

NM_001283009.2(RTEL1):c.1301C>T (p.Thr434Met)

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: 63685825 (on Assembly GRCh38)
• Chr20: 62317178 (on Assembly GRCh37)

Preferred name:

NM_001283009.2(RTEL1):c.1301C>T (p.Thr434Met)

HGVS:

• NC_000020.11:g.63685825C>T
• NG_033901.1:g.33016C>T
• NM_001283009.2:c.1301C>TMANE SELECT
• NM_001283010.1:c.632C>T
• NM_016434.4:c.1301C>T
• NM_032957.5:c.1373C>T
• NP_001269938.1:p.Thr434Met
• NP_001269938.1:p.Thr434Met
• NP_001269939.1:p.Thr211Met
• NP_057518.1:p.Thr434Met
• NP_116575.3:p.Thr458Met
• NP_116575.3:p.Thr458Met
• LRG_1149t1:c.1373C>T
• LRG_1149t2:c.1301C>T
• LRG_1149t3:c.1301C>T
• LRG_1149:g.33016C>T
• LRG_1149p1:p.Thr458Met
• LRG_1149p2:p.Thr434Met
• LRG_1149p3:p.Thr434Met
• NC_000020.10:g.62317178C>T
• NM_001283009.1:c.1301C>T
• NM_032957.4:c.1373C>T
• NR_037882.1:n.2128C>T
• p.Thr458Met

This HGVS expression did not pass validation

Protein change:

T211M

Links:

dbSNP: rs77086616

NCBI 1000 Genomes Browser:

rs77086616

Molecular consequence:

• NM_001283009.2:c.1301C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001283010.1:c.632C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_016434.4:c.1301C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_032957.5:c.1373C>T - missense variant - [Sequence Ontology: SO:0001583]
• NR_037882.1:n.2128C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Observations:

7