ClinVar

NM_001283009.2(RTEL1):c.1344G>C (p.Lys448Asn)

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: 63685868 (on Assembly GRCh38)
• Chr20: 62317221 (on Assembly GRCh37)

Preferred name:

NM_001283009.2(RTEL1):c.1344G>C (p.Lys448Asn)

HGVS:

• NC_000020.11:g.63685868G>C
• NG_033901.1:g.33059G>C
• NM_001283009.2:c.1344G>CMANE SELECT
• NM_001283010.1:c.675G>C
• NM_016434.4:c.1344G>C
• NM_032957.5:c.1416G>C
• NP_001269938.1:p.Lys448Asn
• NP_001269939.1:p.Lys225Asn
• NP_057518.1:p.Lys448Asn
• NP_116575.3:p.Lys472Asn
• NP_116575.3:p.Lys472Asn
• LRG_1149t1:c.1416G>C
• LRG_1149t2:c.1344G>C
• LRG_1149t3:c.1344G>C
• LRG_1149:g.33059G>C
• LRG_1149p1:p.Lys472Asn
• LRG_1149p2:p.Lys448Asn
• LRG_1149p3:p.Lys448Asn
• NC_000020.10:g.62317221G>C
• NM_032957.4:c.1416G>C
• NR_037882.1:n.2171G>C

This HGVS expression did not pass validation

Protein change:

K225N

Links:

dbSNP: rs755129499

NCBI 1000 Genomes Browser:

rs755129499

Molecular consequence:

• NM_001283009.2:c.1344G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001283010.1:c.675G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_016434.4:c.1344G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_032957.5:c.1416G>C - missense variant - [Sequence Ontology: SO:0001583]
• NR_037882.1:n.2171G>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]