ClinVar

NM_002528.7(NTHL1):c.327C>T (p.His109=)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

16p13.3

Genomic location:

• Chr16: 2046155 (on Assembly GRCh38)
• Chr16: 2096156 (on Assembly GRCh37)

Preferred name:

NM_002528.7(NTHL1):c.327C>T (p.His109=)

HGVS:

• NC_000016.10:g.2046155G>A
• NG_005895.1:g.1850G>A
• NG_008412.1:g.6712C>T
• NM_001318193.2:c.327C>T
• NM_001318194.2:c.24+125C>T
• NM_002528.7:c.327C>TMANE SELECT
• NP_001305122.2:p.His109=
• NP_002519.2:p.His109=
• LRG_1366t1:c.327C>T
• LRG_1366:g.6712C>T
• LRG_1366p1:p.His109=
• LRG_487:g.1850G>A
• NC_000016.9:g.2096156G>A
• NM_002528.5:c.351C>T

This HGVS expression did not pass validation

Molecular consequence:

• NM_001318194.2:c.24+125C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001318193.2:c.327C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_002528.7:c.327C>T - synonymous variant - [Sequence Ontology: SO:0001819]