ClinVar

NM_001271696.3(ABCB7):c.121T>C (p.Trp41Arg)

Genes:

LOC130068449:ATAC-STARR-seq lymphoblastoid active region 29770 [Gene]
ABCB7:ATP binding cassette subfamily B member 7 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

Xq13.3

Genomic location:

• ChrX: 75156152 (on Assembly GRCh38)
• ChrX: 74375987 (on Assembly GRCh37)

Preferred name:

NM_001271696.3(ABCB7):c.121T>C (p.Trp41Arg)

Other names:

p.W41R:TGG>CGG

HGVS:

• NC_000023.11:g.75156152A>G
• NG_007980.3:g.5132T>C
• NG_015972.2:g.4774A>G
• NM_001271696.3:c.121T>CMANE SELECT
• NM_001271697.3:c.121T>C
• NM_001271698.3:c.121T>C
• NM_001271699.3:c.121T>C
• NM_004299.6:c.121T>C
• NP_001258625.1:p.Trp41Arg
• NP_001258626.1:p.Trp41Arg
• NP_001258627.1:p.Trp41Arg
• NP_001258628.1:p.Trp41Arg
• NP_004290.2:p.Trp41Arg
• LRG_1162t1:c.121T>C
• LRG_1162t2:c.121T>C
• LRG_1162:g.5132T>C
• LRG_1162p1:p.Trp41Arg
• LRG_1162p2:p.Trp41Arg
• NC_000023.10:g.74375987A>G
• NG_007980.2:g.5581T>C
• NM_004299.3:c.121T>C
• NM_004299.4:c.121T>C

This HGVS expression did not pass validation

Protein change:

W41R

Links:

dbSNP: rs143380072

NCBI 1000 Genomes Browser:

rs143380072

Molecular consequence:

• NM_001271696.3:c.121T>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001271697.3:c.121T>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001271698.3:c.121T>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001271699.3:c.121T>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_004299.6:c.121T>C - missense variant - [Sequence Ontology: SO:0001583]