ClinVar

NM_001184.4(ATR):c.305G>T (p.Trp102Leu)

Gene:

ATR:ATR serine/threonine kinase [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

3q23

Genomic location:

• Chr3: 142563097 (on Assembly GRCh38)
• Chr3: 142281939 (on Assembly GRCh37)

Preferred name:

NM_001184.4(ATR):c.305G>T (p.Trp102Leu)

HGVS:

• NC_000003.12:g.142563097C>A
• NG_008951.1:g.20730G>T
• NM_001184.4:c.305G>TMANE SELECT
• NM_001354579.2:c.305G>T
• NP_001175.2:p.Trp102Leu
• NP_001341508.1:p.Trp102Leu
• LRG_1403t1:c.305G>T
• LRG_1403:g.20730G>T
• LRG_1403p1:p.Trp102Leu
• NC_000003.11:g.142281939C>A

This HGVS expression did not pass validation

Protein change:

W102L

Links:

dbSNP: rs794727632

NCBI 1000 Genomes Browser:

rs794727632

Molecular consequence:

• NM_001184.4:c.305G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001354579.2:c.305G>T - missense variant - [Sequence Ontology: SO:0001583]

Observations:

1