ClinVar

NM_198994.3(TGM6):c.12C>G (p.Ile4Met)

Gene:

TGM6:transglutaminase 6 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

20p13

Genomic location:

• Chr20: 2394456 (on Assembly GRCh38)
• Chr20: 2375102 (on Assembly GRCh37)

Preferred name:

NM_198994.3(TGM6):c.12C>G (p.Ile4Met)

HGVS:

• NC_000020.11:g.2394456C>G
• NG_031917.1:g.18549C>G
• NM_001254734.2:c.12C>G
• NM_198994.3:c.12C>GMANE SELECT
• NP_001241663.1:p.Ile4Met
• NP_945345.2:p.Ile4Met
• NC_000020.10:g.2375102C>G
• NM_198994.2:c.12C>G

This HGVS expression did not pass validation

Protein change:

I4M

Links:

dbSNP: rs139796716

NCBI 1000 Genomes Browser:

rs139796716

Molecular consequence:

• NM_001254734.2:c.12C>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_198994.3:c.12C>G - missense variant - [Sequence Ontology: SO:0001583]