ClinVar

NM_002528.7(NTHL1):c.419C>T (p.Ala140Val)

Gene:

NTHL1:nth like DNA glycosylase 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

16p13.3

Genomic location:

• Chr16: 2044736 (on Assembly GRCh38)
• Chr16: 2094737 (on Assembly GRCh37)

Preferred name:

NM_002528.7(NTHL1):c.419C>T (p.Ala140Val)

HGVS:

• NC_000016.10:g.2044736G>A
• NG_005895.1:g.431G>A
• NG_008412.1:g.8131C>T
• NM_001318193.2:c.355-1010C>T
• NM_001318194.2:c.89C>T
• NM_002528.7:c.419C>TMANE SELECT
• NP_001305123.1:p.Ala30Val
• NP_002519.2:p.Ala140Val
• LRG_1366t1:c.419C>T
• LRG_1366:g.8131C>T
• LRG_1366p1:p.Ala140Val
• LRG_487:g.431G>A
• NC_000016.9:g.2094737G>A
• NM_002528.5:c.443C>T

This HGVS expression did not pass validation

Protein change:

A140V

Links:

dbSNP: rs750992242

NCBI 1000 Genomes Browser:

rs750992242

Molecular consequence:

• NM_001318193.2:c.355-1010C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001318194.2:c.89C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_002528.7:c.419C>T - missense variant - [Sequence Ontology: SO:0001583]