ClinVar

NM_006785.4(MALT1):c.92A>G (p.Asn31Ser)

Genes:

LOC130062586:ATAC-STARR-seq lymphoblastoid silent region 9487 [Gene]
MALT1-AS1:MALT1 antisense RNA 1 [Gene - HGNC]
MALT1:MALT1 paracaspase [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

18q21.32

Genomic location:

• Chr18: 58671735 (on Assembly GRCh38)
• Chr18: 56338967 (on Assembly GRCh37)

Preferred name:

NM_006785.4(MALT1):c.92A>G (p.Asn31Ser)

HGVS:

• NC_000018.10:g.58671735A>G
• NG_033893.2:g.5350A>G
• NM_006785.2:c.92A>G
• NM_006785.4:c.92A>GMANE SELECT
• NM_173844.3:c.92A>G
• NP_006776.1:p.Asn31Ser
• NP_776216.1:p.Asn31Ser
• LRG_1221t1:c.92A>G
• LRG_1221:g.5350A>G
• LRG_1221p1:p.Asn31Ser
• NC_000018.9:g.56338967A>G
• NM_006785.3:c.92A>G
• NR_164150.1:n.139T>C

This HGVS expression did not pass validation

Protein change:

N31S

Links:

dbSNP: rs888829305

NCBI 1000 Genomes Browser:

rs888829305

Molecular consequence:

• NM_006785.4:c.92A>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_173844.3:c.92A>G - missense variant - [Sequence Ontology: SO:0001583]
• NR_164150.1:n.139T>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]