ClinVar

NM_198219.3(ING1):c.136+1349C>G

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: 110715634 (on Assembly GRCh38)
• Chr13: 111367981 (on Assembly GRCh37)

Preferred name:

NM_198219.3(ING1):c.136+1349C>G

HGVS:

• NC_000013.11:g.110715634C>G
• NG_012197.1:g.7899C>G
• NG_012197.2:g.8013C>G
• NG_042045.2:g.2968G>C
• NG_189606.1:g.228C>G
• NM_001267728.1:c.85+106C>G
• NM_005537.5:c.191C>G
• NM_198217.3:c.4+2657C>G
• NM_198218.3:c.-72+2048C>G
• NM_198219.3:c.136+1349C>GMANE SELECT
• NP_005528.4:p.Pro64Arg
• NC_000013.10:g.111367981C>G
• NM_005537.3:c.191C>G

This HGVS expression did not pass validation

Protein change:

P64R

Molecular consequence:

• NM_001267728.1:c.85+106C>G - intron variant - [Sequence Ontology: SO:0001627]
• NM_198217.3:c.4+2657C>G - intron variant - [Sequence Ontology: SO:0001627]
• NM_198218.3:c.-72+2048C>G - intron variant - [Sequence Ontology: SO:0001627]
• NM_198219.3:c.136+1349C>G - intron variant - [Sequence Ontology: SO:0001627]
• NM_005537.5:c.191C>G - missense variant - [Sequence Ontology: SO:0001583]