ClinVar

NM_002528.7(NTHL1):c.234C>T (p.Val78=)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

16p13.3

Genomic location:

• Chr16: 2046248 (on Assembly GRCh38)
• Chr16: 2096249 (on Assembly GRCh37)

Preferred name:

NM_002528.7(NTHL1):c.234C>T (p.Val78=)

HGVS:

• NC_000016.10:g.2046248G>A
• NG_005895.1:g.1943G>A
• NG_008412.1:g.6619C>T
• NM_001318193.2:c.234C>T
• NM_001318194.2:c.24+32C>T
• NM_002528.7:c.234C>TMANE SELECT
• NP_001305122.2:p.Val78=
• NP_002519.2:p.Val78=
• LRG_1366t1:c.234C>T
• LRG_1366:g.6619C>T
• LRG_1366p1:p.Val78=
• LRG_487:g.1943G>A
• NC_000016.9:g.2096249G>A

This HGVS expression did not pass validation

Links:

dbSNP: rs1596223055

NCBI 1000 Genomes Browser:

rs1596223055

Molecular consequence:

• NM_001318194.2:c.24+32C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001318193.2:c.234C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_002528.7:c.234C>T - synonymous variant - [Sequence Ontology: SO:0001819]