ClinVar

NM_005491.5(MAMLD1):c.*33G>T

Gene:

MAMLD1:mastermind like domain containing 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

Xq28

Genomic location:

• ChrX: 150510035 (on Assembly GRCh38)
• ChrX: 149678305 (on Assembly GRCh37)

Preferred name:

NM_005491.5(MAMLD1):c.*33G>T

HGVS:

• NC_000023.11:g.150510035G>T
• NG_017093.2:g.151738G>T
• NM_001177465.3:c.1916G>T
• NM_001177466.3:c.*33G>T
• NM_001400512.1:c.1991G>T
• NM_001400513.1:c.*33G>T
• NM_001400514.1:c.*33G>T
• NM_001400515.1:c.*33G>T
• NM_005491.5:c.*33G>TMANE SELECT
• NP_001170936.1:p.Ser639Ile
• NP_001387441.1:p.Ser664Ile
• NC_000023.10:g.149678305G>T
• NM_001177465.1:c.1916G>T

This HGVS expression did not pass validation

Protein change:

S639I

Links:

dbSNP: rs193920839

NCBI 1000 Genomes Browser:

rs193920839

Molecular consequence:

• NM_001177466.3:c.*33G>T - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
• NM_001400513.1:c.*33G>T - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
• NM_001400514.1:c.*33G>T - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
• NM_001400515.1:c.*33G>T - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
• NM_005491.5:c.*33G>T - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
• NM_001177465.3:c.1916G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001400512.1:c.1991G>T - missense variant - [Sequence Ontology: SO:0001583]