ClinVar

NM_198219.3(ING1):c.136+1310G>C

Genes:

LOC130010137:ATAC-STARR-seq lymphoblastoid active region 8013 [Gene]
ING1:inhibitor of growth family member 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

13q34

Genomic location:

• Chr13: 110715595 (on Assembly GRCh38)
• Chr13: 111367942 (on Assembly GRCh37)

Preferred name:

NM_198219.3(ING1):c.136+1310G>C

HGVS:

• NC_000013.11:g.110715595G>C
• NG_012197.1:g.7860G>C
• NG_012197.2:g.7974G>C
• NG_042045.2:g.3007C>G
• NG_189606.1:g.189G>C
• NM_001267728.1:c.85+67G>C
• NM_005537.5:c.152G>C
• NM_198217.3:c.4+2618G>C
• NM_198218.3:c.-72+2009G>C
• NM_198219.3:c.136+1310G>CMANE SELECT
• NP_005528.4:p.Arg51Pro
• NC_000013.10:g.111367942G>C
• NM_005537.3:c.152G>C

This HGVS expression did not pass validation

Protein change:

R51P

Molecular consequence:

• NM_001267728.1:c.85+67G>C - intron variant - [Sequence Ontology: SO:0001627]
• NM_198217.3:c.4+2618G>C - intron variant - [Sequence Ontology: SO:0001627]
• NM_198218.3:c.-72+2009G>C - intron variant - [Sequence Ontology: SO:0001627]
• NM_198219.3:c.136+1310G>C - intron variant - [Sequence Ontology: SO:0001627]
• NM_005537.5:c.152G>C - missense variant - [Sequence Ontology: SO:0001583]