ClinVar

NM_002528.7(NTHL1):c.318G>A (p.Gly106=)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

16p13.3

Genomic location:

• Chr16: 2046164 (on Assembly GRCh38)
• Chr16: 2096165 (on Assembly GRCh37)

Preferred name:

NM_002528.7(NTHL1):c.318G>A (p.Gly106=)

HGVS:

• NC_000016.10:g.2046164C>T
• NG_005895.1:g.1859C>T
• NG_008412.1:g.6703G>A
• NM_001318193.2:c.318G>A
• NM_001318194.2:c.24+116G>A
• NM_002528.5:c.342G>A
• NM_002528.7:c.318G>AMANE SELECT
• NP_001305122.2:p.Gly106=
• NP_002519.2:p.Gly106=
• LRG_1366t1:c.318G>A
• LRG_1366:g.6703G>A
• LRG_1366p1:p.Gly106=
• LRG_487:g.1859C>T
• NC_000016.9:g.2096165C>T
• NC_000016.9:g.2096165C>T
• NM_002528.6:c.342G>A

This HGVS expression did not pass validation

Links:

dbSNP: rs1596222612

NCBI 1000 Genomes Browser:

rs1596222612

Molecular consequence:

• NM_001318194.2:c.24+116G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_001318193.2:c.318G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_002528.7:c.318G>A - synonymous variant - [Sequence Ontology: SO:0001819]